Canonical Allele Identifier: CA573559755
Gene:

Linked Data

dbSNP Id: rs1466051028
gnomAD v2: 7-26008080-G-A
gnomAD v3: 7-25968460-G-A
gnomAD v4: 7-25968460-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.25968460G>A , CM000669.2:g.25968460G>A GRCh38
NC_000007.13:g.26008080G>A , CM000669.1:g.26008080G>A GRCh37
NC_000007.12:g.25974605G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927113.1:n.1492-12961C>T
XR_927114.1:n.1492-28999C>T
XR_927115.1:n.1583-12961C>T
XR_927116.1:n.983-12961C>T
XR_927117.1:n.1336-12961C>T
XR_927118.1:n.1580-12961C>T
XR_927119.1:n.1243-12961C>T
XR_927120.1:n.1228-28999C>T
XR_927122.1:n.718-28999C>T
XR_927123.1:n.1201-12961C>T
XR_927113.2:n.1519-12961C>T
XR_927114.2:n.1519-28999C>T
XR_927116.2:n.1013-12961C>T
XR_927117.2:n.1364-12961C>T
XR_927119.2:n.1850-12961C>T
XR_927120.2:n.1256-28999C>T
XR_927122.2:n.750-28999C>T
XR_927123.2:n.1224-12961C>T