Canonical Allele Identifier: CA93117915
Gene:

Linked Data

dbSNP Id: rs933456584
gnomAD v2: 4-12579850-C-A
gnomAD v3: 4-12578226-C-A
gnomAD v4: 4-12578226-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578226C>A , CM000666.2:g.12578226C>A GRCh38
NC_000004.11:g.12579850C>A , CM000666.1:g.12579850C>A GRCh37
NC_000004.10:g.12188948C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31116G>T
XR_001741374.1:n.254+44429G>T
XR_925406.3:n.140+31116G>T