Canonical Allele Identifier: CA1063282166
Gene:

Linked Data

dbSNP Id: rs1756228789
gnomAD v3: 4-62558202-G-A
gnomAD v4: 4-62558202-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558202G>A , CM000666.2:g.62558202G>A GRCh38
NC_000004.11:g.63423920G>A , CM000666.1:g.63423920G>A GRCh37
NC_000004.10:g.63106515G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5642G>A