Canonical Allele Identifier: CA98367532
Gene:

Linked Data

dbSNP Id: rs189316594
gnomAD v3: 4-62558012-G-A
gnomAD v4: 4-62558012-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558012G>A , CM000666.2:g.62558012G>A GRCh38
NC_000004.11:g.63423730G>A , CM000666.1:g.63423730G>A GRCh37
NC_000004.10:g.63106325G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5832G>A