Canonical Allele Identifier: CA115007

Gene:

Linked Data

• ClinVar Variation Id: 1420
• ClinVar RCV Id: RCV000001485
• dbSNP Id: rs12896399
• gnomAD: 14:92773663 G / T
• MyVariant Identifiers: chr14:g.92773663G>T (hg19) ; chr14:g.92307319G>T (hg38)
• PubMed: PMID:17952075

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92307319G>T , CM000676.2:g.92307319G>T	GRCh38
NC_000014.8:g.92773663G>T , CM000676.1:g.92773663G>T	GRCh37
NC_000014.7:g.91843416G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944153.1:n.131+2775G>T