Canonical Allele Identifier: CA73026648
Gene:

Linked Data

dbSNP Id: rs949672166
gnomAD v2: 3-39304698-G-A
gnomAD v3: 3-39263207-G-A
gnomAD v4: 3-39263207-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39263207G>A , CM000665.2:g.39263207G>A GRCh38
NC_000003.11:g.39304698G>A , CM000665.1:g.39304698G>A GRCh37
NC_000003.10:g.39279702G>A NCBI36
NG_016362.1:g.23529C>T

Transcript Alleles

HGVS Amino-acid change
XR_001740660.2:n.2724G>A