Canonical Allele Identifier: CA388161373
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1025503
ClinVar RCV Id: RCV001325823 RCV002438746 RCV003462901
dbSNP Id: rs1952727557
MyVariant Identifiers: chr13:g.48942736G>C (hg19) chr13:g.48368600G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48368600G>C , CM000675.2:g.48368600G>C GRCh38
NC_000013.10:g.48942736G>C , CM000675.1:g.48942736G>C GRCh37
NC_000013.9:g.47840737G>C NCBI36
NG_009009.1:g.69854G>C , LRG_517:g.69854G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1123G>C MANE Select ENSP00000267163.4:p.Val375Leu
ENST00000650461.1:c.1123G>C ENSP00000497193.1:p.Val375Leu
ENST00000267163.4:c.1123G>C ENSP00000267163.4:p.Val375Leu
NM_000321.2:c.1123G>C , LRG_517t1:c.1123G>C NP_000312.2:p.Val375Leu
XM_011535171.1:c.862G>C XP_011533473.1:p.Val288Leu
XM_011535171.2:c.862G>C XP_011533473.1:p.Val288Leu
XR_002957522.1:n.122-3624C>G
NM_000321.3:c.1123G>C MANE Select NP_000312.2:p.Val375Leu
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