Canonical Allele Identifier: CA93117902
Gene:

Linked Data

dbSNP Id: rs144193204
gnomAD v2: 4-12579759-C-T
gnomAD v3: 4-12578135-C-T
gnomAD v4: 4-12578135-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578135C>T , CM000666.2:g.12578135C>T GRCh38
NC_000004.11:g.12579759C>T , CM000666.1:g.12579759C>T GRCh37
NC_000004.10:g.12188857C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31207G>A
XR_001741374.1:n.254+44520G>A
XR_925406.3:n.140+31207G>A