Canonical Allele Identifier: CA037358
Gene: RB1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.48480010C>A
GRCh37 chr13:g.49054146C>A
Revel Score:
ENST00000542917 0.500
ENST00000267163 (MANE Select) 0.500
gnomAD v2:
13:49054146 C / A
gnomAD v3:
13:48480010 C / A
gnomAD v4:
chr13-48480010-C-A
Joint Max Group AF 0.00000878 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
ClinVar RCV:
RCV000632943
RCV001016407
ClinVar Variation:
527914
dbSNP:
761999108
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48480010C>A , CM000675.2:g.48480010C>A GRCh38
NC_000013.10:g.49054146C>A , CM000675.1:g.49054146C>A GRCh37
NC_000013.9:g.47952147C>A NCBI36
NG_009009.1:g.181264C>A , LRG_517:g.181264C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2726C>A MANE Select ENSP00000267163.4:p.Thr909Lys
ENST00000643064.1:c.194+98567C>A
ENST00000650461.1:c.2745C>A ENSP00000497193.1:p.Asn915Lys
ENST00000267163.4:c.2726C>A ENSP00000267163.4:p.Thr909Lys
ENST00000484879.1:n.460C>A
ENST00000531171.5:n.329C>A
NM_000321.2:c.2726C>A , LRG_517t1:c.2726C>A NP_000312.2:p.Thr909Lys
XM_011535171.1:c.2465C>A XP_011533473.1:p.Thr822Lys
XM_011535171.2:c.2465C>A XP_011533473.1:p.Thr822Lys
NM_000321.3:c.2726C>A MANE Select NP_000312.2:p.Thr909Lys
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