Canonical Allele Identifier: CA388250405
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1508052
ClinVar RCV Id: RCV002013754
dbSNP Id: rs2138028088
MyVariant Identifiers: chr13:g.48878185G>C (hg19) chr13:g.48304049G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304049G>C , CM000675.2:g.48304049G>C GRCh38
NC_000013.10:g.48878185G>C , CM000675.1:g.48878185G>C GRCh37
NC_000013.9:g.47776186G>C NCBI36
NG_009009.1:g.5303G>C , LRG_517:g.5303G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137G>C MANE Select ENSP00000267163.4:p.Arg46Thr
ENST00000646097.1:c.137G>C ENSP00000496556.1:p.Arg46Thr
ENST00000650461.1:c.137G>C ENSP00000497193.1:p.Arg46Thr
ENST00000267163.4:c.137G>C ENSP00000267163.4:p.Arg46Thr
ENST00000467505.5:c.137G>C ENSP00000434702.1:p.Arg46Thr
ENST00000525036.1:n.299G>C
NM_000321.2:c.137G>C , LRG_517t1:c.137G>C NP_000312.2:p.Arg46Thr
NM_000321.3:c.137G>C MANE Select NP_000312.2:p.Arg46Thr
Search 100 bp 5'
Search 100 bp 3'