Canonical Allele Identifier: CA613876319

Gene:

Linked Data

• dbSNP Id: rs1281936034
• gnomAD v2: 14-51323677-C-T
• gnomAD v3: 14-50856959-C-T
• gnomAD v4: 14-50856959-C-T
• MyVariant Identifiers: chr14:g.51323677C>T (hg19) ; chr14:g.50856959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50856959C>T , CM000676.2:g.50856959C>T	GRCh38
NC_000014.8:g.51323677C>T , CM000676.1:g.51323677C>T	GRCh37
NC_000014.7:g.50393427C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943848.1:n.282+1139G>A
XR_943848.2:n.643+1139G>A