Canonical Allele Identifier: CA772782689

Gene:

Linked Data

• dbSNP Id: rs2586502
• MyVariant Identifiers: chr17:g.48289070C>G (hg19) ; chr17:g.50211709C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211709C>G , CM000679.2:g.50211709C>G	GRCh38
NC_000017.10:g.48289070C>G , CM000679.1:g.48289070C>G	GRCh37
NC_000017.9:g.45644069C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_934838.1:n.43-2126C>G