Canonical Allele Identifier: CA629855471

Gene:

Linked Data

• dbSNP Id: rs547221687
• gnomAD v2: 18-47172210-C-G
• MyVariant Identifiers: chr18:g.47172210C>G (hg19) ; chr18:g.49645840C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49645840C>G , CM000680.2:g.49645840C>G	GRCh38
NC_000018.9:g.47172210C>G , CM000680.1:g.47172210C>G	GRCh37
NC_000018.8:g.45426208C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_935461.1:n.162-16194C>G
XR_001753446.1:n.898-16194C>G