Canonical Allele Identifier: CA77076782
Gene:

Linked Data

dbSNP Id: rs961366500
gnomAD v3: 3-70577243-T-C
gnomAD v4: 3-70577243-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577243T>C , CM000665.2:g.70577243T>C GRCh38
NC_000003.11:g.70626394T>C , CM000665.1:g.70626394T>C GRCh37
NC_000003.10:g.70709084T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.406+1275A>G
XR_001740559.1:n.366+1275A>G