Canonical Allele Identifier: CA11468745
Gene:

Linked Data

dbSNP Id: rs11720452
gnomAD v2: 3-21248642-C-T
gnomAD v3: 3-21207150-C-T
gnomAD v4: 3-21207150-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.21207150C>T , CM000665.2:g.21207150C>T GRCh38
NC_000003.11:g.21248642C>T , CM000665.1:g.21248642C>T GRCh37
NC_000003.10:g.21223646C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940646.1:n.254-3848C>T
XR_940646.2:n.547-3848C>T