Canonical Allele Identifier: CA027567
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 572603
ClinVar RCV Id: RCV000694026 RCV002458244
dbSNP Id: rs750094760
ExAC: 13:48942708 G / C
gnomAD v2: 13-48942708-G-C
gnomAD v4: 13-48368572-G-C
MyVariant Identifiers: chr13:g.48942708G>C (hg19) chr13:g.48368572G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48368572G>C , CM000675.2:g.48368572G>C GRCh38
NC_000013.10:g.48942708G>C , CM000675.1:g.48942708G>C GRCh37
NC_000013.9:g.47840709G>C NCBI36
NG_009009.1:g.69826G>C , LRG_517:g.69826G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1095G>C MANE Select ENSP00000267163.4:p.Glu365Asp
ENST00000650461.1:c.1095G>C ENSP00000497193.1:p.Glu365Asp
ENST00000267163.4:c.1095G>C ENSP00000267163.4:p.Glu365Asp
NM_000321.2:c.1095G>C , LRG_517t1:c.1095G>C NP_000312.2:p.Glu365Asp
XM_011535171.1:c.834G>C XP_011533473.1:p.Glu278Asp
XM_011535171.2:c.834G>C XP_011533473.1:p.Glu278Asp
XR_002957522.1:n.122-3596C>G
NM_000321.3:c.1095G>C MANE Select NP_000312.2:p.Glu365Asp
Search 100 bp 5'
Search 100 bp 3'