Canonical Allele Identifier: CA615972743

Gene:

Linked Data

• dbSNP Id: rs1200443867
• gnomAD v2: 14-92780990-C-T
• gnomAD v3: 14-92314646-C-T
• gnomAD v4: 14-92314646-C-T
• MyVariant Identifiers: chr14:g.92780990C>T (hg19) ; chr14:g.92314646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92314646C>T , CM000676.2:g.92314646C>T	GRCh38
NC_000014.8:g.92780990C>T , CM000676.1:g.92780990C>T	GRCh37
NC_000014.7:g.91850743C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944153.1:n.132-600C>T