Canonical Allele Identifier: CA2595039441

Gene:

Linked Data

• dbSNP Id: rs2144613963
• gnomAD v3: 17-50211609-C-T
• gnomAD v4: 17-50211609-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211609C>T , CM000679.2:g.50211609C>T	GRCh38
NC_000017.10:g.48288970C>T , CM000679.1:g.48288970C>T	GRCh37
NC_000017.9:g.45643969C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.42+2203C>T