Canonical Allele Identifier: CA261374874

Gene:

Linked Data

• dbSNP Id: rs183438039
• gnomAD v2: 14-52884256-G-C
• gnomAD v3: 14-52417538-G-C
• gnomAD v4: 14-52417538-G-C
• MyVariant Identifiers: chr14:g.52884256G>C (hg19) ; chr14:g.52417538G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417538G>C , CM000676.2:g.52417538G>C	GRCh38
NC_000014.8:g.52884256G>C , CM000676.1:g.52884256G>C	GRCh37
NC_000014.7:g.51954006G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943866.1:n.3165C>G