Canonical Allele Identifier: CA12558256
Gene:

Linked Data

dbSNP Id: rs1055144
gnomAD v2: 7-25871109-C-T
gnomAD v3: 7-25831489-C-T
gnomAD v4: 7-25831489-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.25831489C>T , CM000669.2:g.25831489C>T GRCh38
NC_000007.13:g.25871109C>T , CM000669.1:g.25871109C>T GRCh37
NC_000007.12:g.25837634C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_108752.3:n.418G>A
XR_927108.1:n.392G>A
XR_927109.1:n.474G>A
XR_927110.1:n.378G>A
XR_108752.4:n.432G>A
XR_927110.2:n.557G>A