Canonical Allele Identifier: CA12593316
Gene:

Linked Data

dbSNP Id: rs180242
gnomAD v2: 7-93549596-T-A
gnomAD v3: 7-93920284-T-A
gnomAD v4: 7-93920284-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93920284T>A , CM000669.2:g.93920284T>A GRCh38
NC_000007.13:g.93549596T>A , CM000669.1:g.93549596T>A GRCh37
NC_000007.12:g.93387532T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927751.1:n.302-3764A>T
XR_927751.2:n.850-3764A>T