Canonical Allele Identifier: CA77076783
Gene:

Linked Data

dbSNP Id: rs968110680
gnomAD v3: 3-70577248-G-A
gnomAD v4: 3-70577248-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577248G>A , CM000665.2:g.70577248G>A GRCh38
NC_000003.11:g.70626399G>A , CM000665.1:g.70626399G>A GRCh37
NC_000003.10:g.70709089G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.406+1270C>T
XR_001740559.1:n.366+1270C>T