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same rs id with different chgvs annotation in different website

hi ,erveryone:

nowadays, i meet a puzzling question.

question as follows:

"same rs id and same transcrip (rs932389488, NM_032595.5 ), but has different chgvs annotation in NCBI SNP and varsome".

the chgvs annotation of NCBI SNP: NM_032595.5:c.762G>C https://www.ncbi.nlm.nih.gov/snp/?term=rs932389488

the chgvs annotation of varsome: NM_032595.5:c.756G>C https://varsome.com/variant/hg19/rs932389488?annotation-mode=somatic

Can someone help me to explain the difference.

thanks a lot.

rs ncbi varsome chgvs
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written by 13554221497 • 13554221497

1 answer

NCBI SNP link is for the human GRCh38 (aka hg38) assembly whereas the Varsome link is for GRCh37 (aka hg19) genome assembly. This Varsome link shows data on the GRCh38 assembly: https://varsome.com/variant/hg38/rs932389488?annotation-mode=somatic and it has the HGVS PPP1R9B(NM_032595.5):c.762G>C

• 0 views • link
written by vkkodali_ncbi vkkodali_ncbi

thanks very much, your reply has solved my doubts.

• 0 views • link
written by 13554221497 • 13554221497

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