Canonical Allele Identifier: CA12927251
Gene:

Linked Data

dbSNP Id: rs11774682
gnomAD v2: 8-31034275-C-T
gnomAD v3: 8-31176759-C-T
gnomAD v4: 8-31176759-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176759C>T , CM000670.2:g.31176759C>T GRCh38
NC_000008.10:g.31034275C>T , CM000670.1:g.31034275C>T GRCh37
NC_000008.9:g.31153817C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949642.1:n.288C>T
XR_949643.1:n.20G>A
XR_949644.1:n.20G>A
XR_949645.1:n.20G>A
XR_949646.1:n.20G>A
XR_949647.1:n.633G>A
XR_949648.1:n.535G>A