Canonical Allele Identifier: CA910080421
Gene:

Linked Data

dbSNP Id: rs1476793467
gnomAD v3: 3-72266806-G-A
gnomAD v4: 3-72266806-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266806G>A , CM000665.2:g.72266806G>A GRCh38
NC_000003.11:g.72315957G>A , CM000665.1:g.72315957G>A GRCh37
NC_000003.10:g.72398647G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8302C>T