Canonical Allele Identifier: CA706619731

Gene:

Linked Data

• dbSNP Id: rs1168931530
• MyVariant Identifiers: chr14:g.51323736G>A (hg19) ; chr14:g.50857018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50857018G>A , CM000676.2:g.50857018G>A	GRCh38
NC_000014.8:g.51323736G>A , CM000676.1:g.51323736G>A	GRCh37
NC_000014.7:g.50393486G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943848.1:n.282+1080C>T
XR_943848.2:n.643+1080C>T