Canonical Allele Identifier: CA11190688
Gene:

Linked Data

dbSNP Id: rs12615721
gnomAD v2: 2-81856526-G-A
gnomAD v3: 2-81629402-G-A
gnomAD v4: 2-81629402-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.81629402G>A , CM000664.2:g.81629402G>A GRCh38
NC_000002.11:g.81856526G>A , CM000664.1:g.81856526G>A GRCh37
NC_000002.10:g.81710037G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940294.1:n.563+49793G>A
XR_940295.1:n.485+80655G>A
XR_001739571.1:n.485+80655G>A