Canonical Allele Identifier: CA483711467
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1952047512
gnomAD v4: 13-48303637-G-A
MyVariant Identifiers: chr13:g.48877773G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303637G>A , CM000675.2:g.48303637G>A GRCh38
NC_000013.10:g.48877773G>A , CM000675.1:g.48877773G>A GRCh37
NC_000013.9:g.47775774G>A NCBI36
NG_009009.1:g.4891G>A , LRG_517:g.4891G>A

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.25C>T
NR_046414.2:n.66C>T
Search 100 bp 5'
Search 100 bp 3'