Canonical Allele Identifier: CA963163233

Gene:

Linked Data

• dbSNP Id: rs1354530598
• gnomAD v3: 14-52417646-T-C
• gnomAD v4: 14-52417646-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417646T>C , CM000676.2:g.52417646T>C	GRCh38
NC_000014.8:g.52884364T>C , CM000676.1:g.52884364T>C	GRCh37
NC_000014.7:g.51954114T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943866.1:n.3057A>G