Canonical Allele Identifier: CA16133354
Gene:

Linked Data

dbSNP Id: rs9874556
gnomAD v2: 3-3356174-A-G
gnomAD v3: 3-3314490-A-G
gnomAD v4: 3-3314490-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.3314490A>G , CM000665.2:g.3314490A>G GRCh38
NC_000003.11:g.3356174A>G , CM000665.1:g.3356174A>G GRCh37
NC_000003.10:g.3331174A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940546.1:n.337+22810T>C