Canonical Allele Identifier: CA300391533

Gene:

Linked Data

• dbSNP Id: rs1012213977
• gnomAD v2: 18-47172113-T-C
• gnomAD v3: 18-49645743-T-C
• gnomAD v4: 18-49645743-T-C
• MyVariant Identifiers: chr18:g.47172113T>C (hg19) ; chr18:g.49645743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49645743T>C , CM000680.2:g.49645743T>C	GRCh38
NC_000018.9:g.47172113T>C , CM000680.1:g.47172113T>C	GRCh37
NC_000018.8:g.45426111T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935461.1:n.162-16291T>C
XR_001753446.1:n.898-16291T>C