Canonical Allele Identifier: CA039558
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410943
ClinVar RCV Id: RCV000470650 RCV001017708
dbSNP Id: rs776175164
ExAC: 13:48878131 C / G
gnomAD v2: 13-48878131-C-G
gnomAD v3: 13-48303995-C-G
gnomAD v4: 13-48303995-C-G
MyVariant Identifiers: chr13:g.48878131C>G (hg19) chr13:g.48303995C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303995C>G , CM000675.2:g.48303995C>G GRCh38
NC_000013.10:g.48878131C>G , CM000675.1:g.48878131C>G GRCh37
NC_000013.9:g.47776132C>G NCBI36
NG_009009.1:g.5249C>G , LRG_517:g.5249C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.83C>G MANE Select ENSP00000267163.4:p.Pro28Arg
ENST00000646097.1:c.83C>G ENSP00000496556.1:p.Pro28Arg
ENST00000650461.1:c.83C>G ENSP00000497193.1:p.Pro28Arg
ENST00000267163.4:c.83C>G ENSP00000267163.4:p.Pro28Arg
ENST00000467505.5:c.83C>G ENSP00000434702.1:p.Pro28Arg
ENST00000525036.1:n.245C>G
NM_000321.2:c.83C>G , LRG_517t1:c.83C>G NP_000312.2:p.Pro28Arg
NM_000321.3:c.83C>G MANE Select NP_000312.2:p.Pro28Arg
Search 100 bp 5'
Search 100 bp 3'