Canonical Allele Identifier: CA98367538
Gene:

Linked Data

dbSNP Id: rs950632043
gnomAD v3: 4-62558060-G-A
gnomAD v4: 4-62558060-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558060G>A , CM000666.2:g.62558060G>A GRCh38
NC_000004.11:g.63423778G>A , CM000666.1:g.63423778G>A GRCh37
NC_000004.10:g.63106373G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5784G>A