Canonical Allele Identifier: CA029262
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1430813
ClinVar RCV Id: RCV001948443
dbSNP Id: rs772222746
ExAC: 13:48955547 C / T
gnomAD v2: 13-48955547-C-T
gnomAD v4: 13-48381411-C-T
COSMIC: COSM6438191
MyVariant Identifiers: chr13:g.48955547C>T (hg19) chr13:g.48381411C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381411C>T , CM000675.2:g.48381411C>T GRCh38
NC_000013.10:g.48955547C>T , CM000675.1:g.48955547C>T GRCh37
NC_000013.9:g.47853548C>T NCBI36
NG_009009.1:g.82665C>T , LRG_517:g.82665C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1663C>T MANE Select ENSP00000267163.4:p.His555Tyr
ENST00000643064.1:c.162C>T
ENST00000650461.1:c.1663C>T ENSP00000497193.1:p.His555Tyr
ENST00000267163.4:c.1663C>T ENSP00000267163.4:p.His555Tyr
NM_000321.2:c.1663C>T , LRG_517t1:c.1663C>T NP_000312.2:p.His555Tyr
XM_011535171.1:c.1402C>T XP_011533473.1:p.His468Tyr
XM_011535171.2:c.1402C>T XP_011533473.1:p.His468Tyr
NM_000321.3:c.1663C>T MANE Select NP_000312.2:p.His555Tyr
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