Canonical Allele Identifier: CA12755632
Gene:

Linked Data

dbSNP Id: rs10503672
gnomAD v2: 8-19987703-C-T
gnomAD v3: 8-20130192-C-T
gnomAD v4: 8-20130192-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20130192C>T , CM000670.2:g.20130192C>T GRCh38
NC_000008.10:g.19987703C>T , CM000670.1:g.19987703C>T GRCh37
NC_000008.9:g.20031983C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949563.1:n.3408+273C>T
XR_949563.2:n.3400+273C>T