Canonical Allele Identifier: CA388250195
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 664603
ClinVar RCV Id: RCV000822727
dbSNP Id: rs1566174063
gnomAD v4: 13-48303946-A-G
MyVariant Identifiers: chr13:g.48878082A>G (hg19) chr13:g.48303946A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303946A>G , CM000675.2:g.48303946A>G GRCh38
NC_000013.10:g.48878082A>G , CM000675.1:g.48878082A>G GRCh37
NC_000013.9:g.47776083A>G NCBI36
NG_009009.1:g.5200A>G , LRG_517:g.5200A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.34A>G MANE Select ENSP00000267163.4:p.Thr12Ala
ENST00000646097.1:c.34A>G ENSP00000496556.1:p.Thr12Ala
ENST00000650461.1:c.34A>G ENSP00000497193.1:p.Thr12Ala
ENST00000267163.4:c.34A>G ENSP00000267163.4:p.Thr12Ala
ENST00000467505.5:c.34A>G ENSP00000434702.1:p.Thr12Ala
ENST00000525036.1:n.196A>G
NM_000321.2:c.34A>G , LRG_517t1:c.34A>G NP_000312.2:p.Thr12Ala
NM_000321.3:c.34A>G MANE Select NP_000312.2:p.Thr12Ala
Search 100 bp 5'
Search 100 bp 3'