Canonical Allele Identifier: CA98367551
Gene:

Linked Data

dbSNP Id: rs1033070747
gnomAD v2: 4-63423841-T-A
gnomAD v3: 4-62558123-T-A
gnomAD v4: 4-62558123-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558123T>A , CM000666.2:g.62558123T>A GRCh38
NC_000004.11:g.63423841T>A , CM000666.1:g.63423841T>A GRCh37
NC_000004.10:g.63106436T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5721T>A