Canonical Allele Identifier: CA15810352

Gene:

Linked Data

• dbSNP Id: rs4904868
• gnomAD v2: 14-92781001-T-C
• gnomAD v3: 14-92314657-T-C
• gnomAD v4: 14-92314657-T-C
• MyVariant Identifiers: chr14:g.92781001T>C (hg19) ; chr14:g.92314657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92314657T>C , CM000676.2:g.92314657T>C	GRCh38
NC_000014.8:g.92781001T>C , CM000676.1:g.92781001T>C	GRCh37
NC_000014.7:g.91850754T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944153.1:n.132-589T>C