Canonical Allele Identifier: CA388250398
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2565230
ClinVar RCV Id: RCV003301753
dbSNP Id: rs2138028058
gnomAD v4: 13-48304045-G-C
MyVariant Identifiers: chr13:g.48878181G>C (hg19) chr13:g.48304045G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304045G>C , CM000675.2:g.48304045G>C GRCh38
NC_000013.10:g.48878181G>C , CM000675.1:g.48878181G>C GRCh37
NC_000013.9:g.47776182G>C NCBI36
NG_009009.1:g.5299G>C , LRG_517:g.5299G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.133G>C MANE Select ENSP00000267163.4:p.Val45Leu
ENST00000646097.1:c.133G>C ENSP00000496556.1:p.Val45Leu
ENST00000650461.1:c.133G>C ENSP00000497193.1:p.Val45Leu
ENST00000267163.4:c.133G>C ENSP00000267163.4:p.Val45Leu
ENST00000467505.5:c.133G>C ENSP00000434702.1:p.Val45Leu
ENST00000525036.1:n.295G>C
NM_000321.2:c.133G>C , LRG_517t1:c.133G>C NP_000312.2:p.Val45Leu
NM_000321.3:c.133G>C MANE Select NP_000312.2:p.Val45Leu
Search 100 bp 5'
Search 100 bp 3'