Canonical Allele Identifier: CA698656233
Gene: RB1-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2805716
ClinVar RCV Id: RCV003627744
dbSNP Id: rs1488949117
gnomAD v3: 13-48303691-C-A
gnomAD v4: 13-48303691-C-A
MyVariant Identifiers: chr13:g.48877827C>A (hg19) chr13:g.48303691C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303691C>A , CM000675.2:g.48303691C>A GRCh38
NC_000013.10:g.48877827C>A , CM000675.1:g.48877827C>A GRCh37
NC_000013.9:g.47775828C>A NCBI36
NG_009009.1:g.4945C>A , LRG_517:g.4945C>A

Transcript Alleles

HGVS Amino-acid Change
NR_046414.2:n.12G>T
Search 100 bp 5'
Search 100 bp 3'