Canonical Allele Identifier: CA249841957

Gene: RB1-DT

Linked Data

• dbSNP Id: rs920262115
• gnomAD v3: 13-48303493-T-C
• gnomAD v4: 13-48303493-T-C
• MyVariant Identifiers: chr13:g.48877629T>C (hg19) ; chr13:g.48303493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303493T>C , CM000675.2:g.48303493T>C	GRCh38
NC_000013.10:g.48877629T>C , CM000675.1:g.48877629T>C	GRCh37
NC_000013.9:g.47775630T>C	NCBI36
NG_009009.1:g.4747T>C , LRG_517:g.4747T>C

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.169A>G
NR_046414.2:n.210A>G