Canonical Allele Identifier: CA910080392
Gene:

Linked Data

dbSNP Id: rs918572336
gnomAD v3: 3-72266752-C-A
gnomAD v4: 3-72266752-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266752C>A , CM000665.2:g.72266752C>A GRCh38
NC_000003.11:g.72315903C>A , CM000665.1:g.72315903C>A GRCh37
NC_000003.10:g.72398593C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8356G>T