Canonical Allele Identifier: CA613506523

Gene:

Linked Data

• dbSNP Id: rs1348884333
• gnomAD v2: 14-36853964-C-T
• gnomAD v3: 14-36384759-C-T
• gnomAD v4: 14-36384759-C-T
• MyVariant Identifiers: chr14:g.36853964C>T (hg19) ; chr14:g.36384759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36384759C>T , CM000676.2:g.36384759C>T	GRCh38
NC_000014.8:g.36853964C>T , CM000676.1:g.36853964C>T	GRCh37
NC_000014.7:g.35923715C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011537428.1:c.319-12400C>T	XP_011535730.1:n.319-12400C>T
XR_943756.1:n.358+23663C>T