Canonical Allele Identifier: CA033500
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1783663
ClinVar RCV Id: RCV002423535
dbSNP Id: rs587778834
ExAC: 13:49033836 C / T
gnomAD v2: 13-49033836-C-T
MyVariant Identifiers: chr13:g.49033836C>T (hg19) chr13:g.48459700C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459700C>T , CM000675.2:g.48459700C>T GRCh38
NC_000013.10:g.49033836C>T , CM000675.1:g.49033836C>T GRCh37
NC_000013.9:g.47931837C>T NCBI36
NG_009009.1:g.160954C>T , LRG_517:g.160954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1973C>T MANE Select ENSP00000267163.4:p.Ala658Val
ENST00000643064.1:c.194+78257C>T
ENST00000650461.1:c.1973C>T ENSP00000497193.1:p.Ala658Val
ENST00000267163.4:c.1973C>T ENSP00000267163.4:p.Ala658Val
NM_000321.2:c.1973C>T , LRG_517t1:c.1973C>T NP_000312.2:p.Ala658Val
XM_011535171.1:c.1712C>T XP_011533473.1:p.Ala571Val
XM_011535171.2:c.1712C>T XP_011533473.1:p.Ala571Val
NM_000321.3:c.1973C>T MANE Select NP_000312.2:p.Ala658Val
Search 100 bp 5'
Search 100 bp 3'