Canonical Allele Identifier: CA033625
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2859984
ClinVar RCV Id: RCV003626192
dbSNP Id: rs750578651
ExAC: 13:49033845 G / C
gnomAD v4: 13-48459709-G-C
MyVariant Identifiers: chr13:g.49033845G>C (hg19) chr13:g.48459709G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459709G>C , CM000675.2:g.48459709G>C GRCh38
NC_000013.10:g.49033845G>C , CM000675.1:g.49033845G>C GRCh37
NC_000013.9:g.47931846G>C NCBI36
NG_009009.1:g.160963G>C , LRG_517:g.160963G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1982G>C MANE Select ENSP00000267163.4:p.Arg661Pro
ENST00000643064.1:c.194+78266G>C
ENST00000650461.1:c.1982G>C ENSP00000497193.1:p.Arg661Pro
ENST00000267163.4:c.1982G>C ENSP00000267163.4:p.Arg661Pro
NM_000321.2:c.1982G>C , LRG_517t1:c.1982G>C NP_000312.2:p.Arg661Pro
XM_011535171.1:c.1721G>C XP_011533473.1:p.Arg574Pro
XM_011535171.2:c.1721G>C XP_011533473.1:p.Arg574Pro
NM_000321.3:c.1982G>C MANE Select NP_000312.2:p.Arg661Pro
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