Canonical Allele Identifier: CA291560771

Gene:

Linked Data

• dbSNP Id: rs191095951
• gnomAD v2: 17-48288992-C-T
• gnomAD v3: 17-50211631-C-T
• gnomAD v4: 17-50211631-C-T
• MyVariant Identifiers: chr17:g.48288992C>T (hg19) ; chr17:g.50211631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211631C>T , CM000679.2:g.50211631C>T	GRCh38
NC_000017.10:g.48288992C>T , CM000679.1:g.48288992C>T	GRCh37
NC_000017.9:g.45643991C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2204C>T