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Verify the genomic mappings manually

Michał Krassowski edited this page Mar 15, 2021 · 1 revision

To get the genomic coordinates for a mutation in a given gene use ENSEMBL gene page → Genetic Variation → Variant table, filter by Consequence (missense) and AA cord (under other columns), for example.

Example link for GRCh37: https://grch37.ensembl.org/Homo_sapiens/Gene/Variation_Gene/Table?db=core;g=ENSG00000029363