Canonical Allele Identifier: CA483711169

Gene: RB1-DT

Linked Data

• dbSNP Id: rs1212939716
• gnomAD v3: 13-48303569-T-G
• gnomAD v4: 13-48303569-T-G
• MyVariant Identifiers: chr13:g.48877705T>G (hg19) ; chr13:g.48303569T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303569T>G , CM000675.2:g.48303569T>G	GRCh38
NC_000013.10:g.48877705T>G , CM000675.1:g.48877705T>G	GRCh37
NC_000013.9:g.47775706T>G	NCBI36
NG_009009.1:g.4823T>G , LRG_517:g.4823T>G

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.93A>C
NR_046414.2:n.134A>C