Canonical Allele Identifier: CA249841988
Gene: RB1-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 3009389
ClinVar RCV Id: RCV003869540
dbSNP Id: rs576931877
gnomAD v3: 13-48303678-G-A
gnomAD v4: 13-48303678-G-A
MyVariant Identifiers: chr13:g.48877814G>A (hg19) chr13:g.48303678G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303678G>A , CM000675.2:g.48303678G>A GRCh38
NC_000013.10:g.48877814G>A , CM000675.1:g.48877814G>A GRCh37
NC_000013.9:g.47775815G>A NCBI36
NG_009009.1:g.4932G>A , LRG_517:g.4932G>A

Transcript Alleles

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