Canonical Allele Identifier: CA028904
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1898360
ClinVar RCV Id: RCV002573897
dbSNP Id: rs746901651
ExAC: 13:48954362 A / T
gnomAD v2: 13-48954362-A-T
gnomAD v4: 13-48380226-A-T
MyVariant Identifiers: chr13:g.48954362A>T (hg19) chr13:g.48380226A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380226A>T , CM000675.2:g.48380226A>T GRCh38
NC_000013.10:g.48954362A>T , CM000675.1:g.48954362A>T GRCh37
NC_000013.9:g.47852363A>T NCBI36
NG_009009.1:g.81480A>T , LRG_517:g.81480A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1483A>T MANE Select ENSP00000267163.4:p.Met495Leu
ENST00000650461.1:c.1483A>T ENSP00000497193.1:p.Met495Leu
ENST00000267163.4:c.1483A>T ENSP00000267163.4:p.Met495Leu
NM_000321.2:c.1483A>T , LRG_517t1:c.1483A>T NP_000312.2:p.Met495Leu
XM_011535171.1:c.1222A>T XP_011533473.1:p.Met408Leu
XM_011535171.2:c.1222A>T XP_011533473.1:p.Met408Leu
NM_000321.3:c.1483A>T MANE Select NP_000312.2:p.Met495Leu
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