Canonical Allele Identifier: CA965996467

Gene:

Linked Data

• dbSNP Id: rs1884674460
• gnomAD v3: 14-92314579-C-T
• gnomAD v4: 14-92314579-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92314579C>T , CM000676.2:g.92314579C>T	GRCh38
NC_000014.8:g.92780923C>T , CM000676.1:g.92780923C>T	GRCh37
NC_000014.7:g.91850676C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944153.1:n.132-667C>T