Canonical Allele Identifier: CA98367563
Gene:

Linked Data

dbSNP Id: rs1017550060
gnomAD v2: 4-63423902-G-A
gnomAD v3: 4-62558184-G-A
gnomAD v4: 4-62558184-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558184G>A , CM000666.2:g.62558184G>A GRCh38
NC_000004.11:g.63423902G>A , CM000666.1:g.63423902G>A GRCh37
NC_000004.10:g.63106497G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5660G>A