Canonical Allele Identifier: CA2089949386

Gene: RB1-DT

Linked Data

• dbSNP Id: rs1952047962
• gnomAD v4: 13-48303673-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303673C>T , CM000675.2:g.48303673C>T	GRCh38
NC_000013.10:g.48877809C>T , CM000675.1:g.48877809C>T	GRCh37
NC_000013.9:g.47775810C>T	NCBI36
NG_009009.1:g.4927C>T , LRG_517:g.4927C>T

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.2:n.30G>A