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genome browser with genomic coordinate

This is a simple question, but I couldn't solve it.

I'm trying to use a free genome viewer like Ensembl or NCBI. I try to check the mutation 35delG in GJB2 gene.

From ensembl or NCBI, I don't know how to display the sequence at genomic coordinate (c.35). Could you help me?

genome-viewer

2 answers

Using clinvar you can see this variant at this link http://www.ncbi.nlm.nih.gov/clinvar/variation/17004/

From this page you can visualize your variant on NCBI 1000 Genomes Browser: http://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/?chr=13&from=20763686&to=20763686&gts=rs80338939&mk=20763686:20763686|rs80338939

You can use Mapback tool to go between amino acid, CDS, and genomic coordinates.

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