Canonical Allele Identifier: CA955794680

Gene: RB1-DT

Linked Data

• dbSNP Id: rs1952048255
• gnomAD v3: 13-48303689-A-C
• gnomAD v4: 13-48303689-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303689A>C , CM000675.2:g.48303689A>C	GRCh38
NC_000013.10:g.48877825A>C , CM000675.1:g.48877825A>C	GRCh37
NC_000013.9:g.47775826A>C	NCBI36
NG_009009.1:g.4943A>C , LRG_517:g.4943A>C

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.2:n.14T>G