Canonical Allele Identifier: CA388166808
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 567172
ClinVar RCV Id: RCV000687177 RCV002422474
dbSNP Id: rs201046651
gnomAD v4: 13-48459760-A-G
MyVariant Identifiers: chr13:g.49033896A>G (hg19) chr13:g.48459760A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459760A>G , CM000675.2:g.48459760A>G GRCh38
NC_000013.10:g.49033896A>G , CM000675.1:g.49033896A>G GRCh37
NC_000013.9:g.47931897A>G NCBI36
NG_009009.1:g.161014A>G , LRG_517:g.161014A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2033A>G MANE Select ENSP00000267163.4:p.His678Arg
ENST00000643064.1:c.194+78317A>G
ENST00000650461.1:c.2033A>G ENSP00000497193.1:p.His678Arg
ENST00000267163.4:c.2033A>G ENSP00000267163.4:p.His678Arg
NM_000321.2:c.2033A>G , LRG_517t1:c.2033A>G NP_000312.2:p.His678Arg
XM_011535171.1:c.1772A>G XP_011533473.1:p.His591Arg
XM_011535171.2:c.1772A>G XP_011533473.1:p.His591Arg
NM_000321.3:c.2033A>G MANE Select NP_000312.2:p.His678Arg
Search 100 bp 5'
Search 100 bp 3'