Canonical Allele Identifier: CA841571737
Gene:

Linked Data

dbSNP Id: rs1261091580
gnomAD v3: 7-69147041-G-A
gnomAD v4: 7-69147041-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69147041G>A , CM000669.2:g.69147041G>A GRCh38
NC_000007.13:g.68612028G>A , CM000669.1:g.68612028G>A GRCh37
NC_000007.12:g.68249964G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927647.1:n.88-915C>T