Canonical Allele Identifier: CA963163190

Gene:

Linked Data

• dbSNP Id: rs2034712516
• gnomAD v3: 14-52417561-C-A
• gnomAD v4: 14-52417561-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417561C>A , CM000676.2:g.52417561C>A	GRCh38
NC_000014.8:g.52884279C>A , CM000676.1:g.52884279C>A	GRCh37
NC_000014.7:g.51954029C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943866.1:n.3142G>T