Canonical Allele Identifier: CA388166723
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1941247
ClinVar RCV Id: RCV002675581
dbSNP Id: rs2138335971
gnomAD v3: 13-48459720-C-T
gnomAD v4: 13-48459720-C-T
MyVariant Identifiers: chr13:g.49033856C>T (hg19) chr13:g.48459720C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459720C>T , CM000675.2:g.48459720C>T GRCh38
NC_000013.10:g.49033856C>T , CM000675.1:g.49033856C>T GRCh37
NC_000013.9:g.47931857C>T NCBI36
NG_009009.1:g.160974C>T , LRG_517:g.160974C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1993C>T MANE Select ENSP00000267163.4:p.Leu665Phe
ENST00000643064.1:c.194+78277C>T
ENST00000650461.1:c.1993C>T ENSP00000497193.1:p.Leu665Phe
ENST00000267163.4:c.1993C>T ENSP00000267163.4:p.Leu665Phe
NM_000321.2:c.1993C>T , LRG_517t1:c.1993C>T NP_000312.2:p.Leu665Phe
XM_011535171.1:c.1732C>T XP_011533473.1:p.Leu578Phe
XM_011535171.2:c.1732C>T XP_011533473.1:p.Leu578Phe
NM_000321.3:c.1993C>T MANE Select NP_000312.2:p.Leu665Phe
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