Canonical Allele Identifier: CA388250330
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372641
ClinVar RCV Id: RCV001908069
dbSNP Id: rs1952054573
MyVariant Identifiers: chr13:g.48878150G>C (hg19) chr13:g.48304014G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304014G>C , CM000675.2:g.48304014G>C GRCh38
NC_000013.10:g.48878150G>C , CM000675.1:g.48878150G>C GRCh37
NC_000013.9:g.47776151G>C NCBI36
NG_009009.1:g.5268G>C , LRG_517:g.5268G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.102G>C MANE Select ENSP00000267163.4:p.Glu34Asp
ENST00000646097.1:c.102G>C ENSP00000496556.1:p.Glu34Asp
ENST00000650461.1:c.102G>C ENSP00000497193.1:p.Glu34Asp
ENST00000267163.4:c.102G>C ENSP00000267163.4:p.Glu34Asp
ENST00000467505.5:c.102G>C ENSP00000434702.1:p.Glu34Asp
ENST00000525036.1:n.264G>C
NM_000321.2:c.102G>C , LRG_517t1:c.102G>C NP_000312.2:p.Glu34Asp
NM_000321.3:c.102G>C MANE Select NP_000312.2:p.Glu34Asp
Search 100 bp 5'
Search 100 bp 3'