Canonical Allele Identifier: CA260835567

Gene:

Linked Data

• dbSNP Id: rs929493541
• gnomAD v2: 14-51323691-C-T
• gnomAD v3: 14-50856973-C-T
• gnomAD v4: 14-50856973-C-T
• MyVariant Identifiers: chr14:g.51323691C>T (hg19) ; chr14:g.50856973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50856973C>T , CM000676.2:g.50856973C>T	GRCh38
NC_000014.8:g.51323691C>T , CM000676.1:g.51323691C>T	GRCh37
NC_000014.7:g.50393441C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943848.1:n.282+1125G>A
XR_943848.2:n.643+1125G>A