Canonical Allele Identifier: CA77246657
Gene:

Linked Data

dbSNP Id: rs986035009
gnomAD v2: 3-72315860-G-A
gnomAD v3: 3-72266709-G-A
gnomAD v4: 3-72266709-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266709G>A , CM000665.2:g.72266709G>A GRCh38
NC_000003.11:g.72315860G>A , CM000665.1:g.72315860G>A GRCh37
NC_000003.10:g.72398550G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8399C>T