Canonical Allele Identifier: CA776019719

Gene:

Linked Data

• dbSNP Id: rs1285784622
• gnomAD v3: 18-10321216-A-C
• gnomAD v4: 18-10321216-A-C
• MyVariant Identifiers: chr18:g.10321213A>C (hg19) ; chr18:g.10321216A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10321216A>C , CM000680.2:g.10321216A>C	GRCh38
NC_000018.9:g.10321213A>C , CM000680.1:g.10321213A>C	GRCh37
NC_000018.8:g.10311213A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935138.1:n.665+932T>G
XR_001753344.1:n.650+932T>G
XR_001753345.1:n.905T>G
XR_001753346.1:n.549+932T>G