Canonical Allele Identifier: CA028922
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458125
ClinVar RCV Id: RCV000529022
dbSNP Id: rs776531398
ExAC: 13:48954368 A / G
gnomAD v2: 13-48954368-A-G
gnomAD v3: 13-48380232-A-G
gnomAD v4: 13-48380232-A-G
MyVariant Identifiers: chr13:g.48954368A>G (hg19) chr13:g.48380232A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380232A>G , CM000675.2:g.48380232A>G GRCh38
NC_000013.10:g.48954368A>G , CM000675.1:g.48954368A>G GRCh37
NC_000013.9:g.47852369A>G NCBI36
NG_009009.1:g.81486A>G , LRG_517:g.81486A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1489A>G MANE Select ENSP00000267163.4:p.Thr497Ala
ENST00000650461.1:c.1489A>G ENSP00000497193.1:p.Thr497Ala
ENST00000267163.4:c.1489A>G ENSP00000267163.4:p.Thr497Ala
NM_000321.2:c.1489A>G , LRG_517t1:c.1489A>G NP_000312.2:p.Thr497Ala
XM_011535171.1:c.1228A>G XP_011533473.1:p.Thr410Ala
XM_011535171.2:c.1228A>G XP_011533473.1:p.Thr410Ala
NM_000321.3:c.1489A>G MANE Select NP_000312.2:p.Thr497Ala
Search 100 bp 5'
Search 100 bp 3'