Canonical Allele Identifier: CA98367573
Gene:

Linked Data

dbSNP Id: rs1455228
gnomAD v2: 4-63423971-C-A
gnomAD v3: 4-62558253-C-A
gnomAD v4: 4-62558253-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558253C>A , CM000666.2:g.62558253C>A GRCh38
NC_000004.11:g.63423971C>A , CM000666.1:g.63423971C>A GRCh37
NC_000004.10:g.63106566C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5591C>A