Canonical Allele Identifier: CA11863570
Gene:

Linked Data

dbSNP Id: rs577231522
gnomAD v2: 4-63423842-C-A
gnomAD v3: 4-62558124-C-A
gnomAD v4: 4-62558124-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558124C>A , CM000666.2:g.62558124C>A GRCh38
NC_000004.11:g.63423842C>A , CM000666.1:g.63423842C>A GRCh37
NC_000004.10:g.63106437C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5720C>A