Canonical Allele Identifier: CA77076777
Gene:

Linked Data

dbSNP Id: rs7628219
gnomAD v2: 3-70626360-C-T
gnomAD v3: 3-70577209-C-T
gnomAD v4: 3-70577209-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577209C>T , CM000665.2:g.70577209C>T GRCh38
NC_000003.11:g.70626360C>T , CM000665.1:g.70626360C>T GRCh37
NC_000003.10:g.70709050C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940947.1:n.407-1256G>A
XR_001740559.1:n.367-1256G>A