Canonical Allele Identifier: CA388163898
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 819719
ClinVar RCV Id: RCV001012517
dbSNP Id: rs1050717570

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381393C>G , CM000675.2:g.48381393C>G GRCh38
NC_000013.10:g.48955529C>G , CM000675.1:g.48955529C>G GRCh37
NC_000013.9:g.47853530C>G NCBI36
NG_009009.1:g.82647C>G , LRG_517:g.82647C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1645C>G MANE Select ENSP00000267163.4:p.His549Asp
ENST00000643064.1:c.144C>G
ENST00000650461.1:c.1645C>G ENSP00000497193.1:p.His549Asp
ENST00000267163.4:c.1645C>G ENSP00000267163.4:p.His549Asp
NM_000321.2:c.1645C>G , LRG_517t1:c.1645C>G NP_000312.2:p.His549Asp
XM_011535171.1:c.1384C>G XP_011533473.1:p.His462Asp
XM_011535171.2:c.1384C>G XP_011533473.1:p.His462Asp
NM_000321.3:c.1645C>G MANE Select NP_000312.2:p.His549Asp