Canonical Allele Identifier: CA040068
Gene: RB1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.48367512C>G
GRCh37 chr13:g.48941648C>G
Revel Score:
ENST00000542917 0.254
ENST00000267163 (MANE Select) 0.254
gnomAD v2:
13:48941648 C / G
gnomAD v3:
13:48367512 C / G
gnomAD v4:
chr13-48367512-C-G
Joint Max Group AF 0.00007323 (EAS)
Genomes Max Group AF 0.00006823 (EAS)
Exomes Max Group AF 0.00004953 (EAS)
ClinVar RCV:
RCV000812789
RCV002381810
ClinVar Variation:
656384
dbSNP:
121913300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48367512C>G , CM000675.2:g.48367512C>G GRCh38
NC_000013.10:g.48941648C>G , CM000675.1:g.48941648C>G GRCh37
NC_000013.9:g.47839649C>G NCBI36
NG_009009.1:g.68766C>G , LRG_517:g.68766C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.958C>G MANE Select ENSP00000267163.4:p.Arg320Gly
ENST00000650461.1:c.958C>G ENSP00000497193.1:p.Arg320Gly
ENST00000267163.4:c.958C>G ENSP00000267163.4:p.Arg320Gly
NM_000321.2:c.958C>G , LRG_517t1:c.958C>G NP_000312.2:p.Arg320Gly
XM_011535171.1:c.697C>G XP_011533473.1:p.Arg233Gly
XM_011535171.2:c.697C>G XP_011533473.1:p.Arg233Gly
XR_002957522.1:n.122-2536G>C
NM_000321.3:c.958C>G MANE Select NP_000312.2:p.Arg320Gly
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