Canonical Allele Identifier: CA15241647
Gene:
COSMIC:
COSN6573331 (not active)
MyVariant.info:
GRCh38 chr3:g.187995930T>A
GRCh37 chr3:g.187713718T>A
gnomAD v2:
3:187713718 T / A
gnomAD v3:
3:187995930 T / A
gnomAD v4:
chr3-187995930-T-A
Joint Max Group AF 0.3870294 (EAS)
Genomes Max Group AF 0.3870294 (EAS)
dbSNP:
10937329
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.187995930T>A , CM000665.2:g.187995930T>A GRCh38
NC_000003.11:g.187713718T>A , CM000665.1:g.187713718T>A GRCh37
NC_000003.10:g.189196412T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741061.1:n.2244A>T
XR_001741062.1:n.2123A>T
Search 100 bp 5'
Search 100 bp 3'