Canonical Allele Identifier: CA780108916

Gene:

Linked Data

• dbSNP Id: rs1162564993
• gnomAD v3: 18-49645841-G-A
• gnomAD v4: 18-49645841-G-A
• MyVariant Identifiers: chr18:g.47172211G>A (hg19) ; chr18:g.49645841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49645841G>A , CM000680.2:g.49645841G>A	GRCh38
NC_000018.9:g.47172211G>A , CM000680.1:g.47172211G>A	GRCh37
NC_000018.8:g.45426209G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_935461.1:n.162-16193G>A
XR_001753446.1:n.898-16193G>A