Canonical Allele Identifier: CA543840941
Gene:

Linked Data

dbSNP Id: rs1287825176
gnomAD v2: 3-70626405-T-A
gnomAD v3: 3-70577254-T-A
gnomAD v4: 3-70577254-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577254T>A , CM000665.2:g.70577254T>A GRCh38
NC_000003.11:g.70626405T>A , CM000665.1:g.70626405T>A GRCh37
NC_000003.10:g.70709095T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.406+1264A>T
XR_001740559.1:n.366+1264A>T