Canonical Allele Identifier: CA2595039452

Gene:

Linked Data

• dbSNP Id: rs2144614062
• gnomAD v3: 17-50211797-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211797C>T , CM000679.2:g.50211797C>T	GRCh38
NC_000017.10:g.48289158C>T , CM000679.1:g.48289158C>T	GRCh37
NC_000017.9:g.45644157C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2038C>T