Canonical Allele Identifier: CA12313366
Gene:
MyVariant.info:
GRCh38 chr6:g.2912043G>A
GRCh37 chr6:g.2912277G>A
gnomAD v2:
6:2912277 G / A
gnomAD v3:
6:2912043 G / A
gnomAD v4:
chr6-2912043-G-A
Joint Max Group AF 0.53824989 (EAS)
Genomes Max Group AF 0.53824989 (EAS)
Exomes Max Group AF 0.14217199 (NFE)
dbSNP:
318497
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2912043G>A , CM000668.2:g.2912043G>A GRCh38
NC_000006.11:g.2912277G>A , CM000668.1:g.2912277G>A GRCh37
NC_000006.10:g.2857276G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000454998.1:n.71C>T
Search 100 bp 5'
Search 100 bp 3'