Canonical Allele Identifier: CA255087098

Gene:

Linked Data

• dbSNP Id: rs536434532
• gnomAD v2: 13-95505315-C-T
• gnomAD v3: 13-94853061-C-T
• gnomAD v4: 13-94853061-C-T
• MyVariant Identifiers: chr13:g.95505315C>T (hg19) ; chr13:g.94853061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94853061C>T , CM000675.2:g.94853061C>T	GRCh38
NC_000013.10:g.95505315C>T , CM000675.1:g.95505315C>T	GRCh37
NC_000013.9:g.94303316C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110754.1:n.257-52403C>T