Canonical Allele Identifier: CA265876946

Gene:

Linked Data

• dbSNP Id: rs1040308545
• MyVariant Identifiers: chr14:g.95078583G>C (hg19) ; chr14:g.94612246G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94612246G>C , CM000676.2:g.94612246G>C	GRCh38
NC_000014.8:g.95078583G>C , CM000676.1:g.95078583G>C	GRCh37
NC_000014.7:g.94148336G>C	NCBI36
NG_012879.1:g.4870G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553947.1:c.805-51G>C