Canonical Allele Identifier: CA388161451
Gene: RB1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.48373416A>G
GRCh37 chr13:g.48947552A>G
Revel Score:
ENST00000542917 0.381
ENST00000267163 (MANE Select) 0.381
gnomAD v2:
13:48947552 A / G
gnomAD v3:
13:48373416 A / G
gnomAD v4:
chr13-48373416-A-G
Joint Max Group AF 0.00000818 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000746 (NFE)
ClinVar RCV:
RCV000632965
RCV002325217
ClinVar Variation:
527934
dbSNP:
1470523018
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48373416A>G , CM000675.2:g.48373416A>G GRCh38
NC_000013.10:g.48947552A>G , CM000675.1:g.48947552A>G GRCh37
NC_000013.9:g.47845553A>G NCBI36
NG_009009.1:g.74670A>G , LRG_517:g.74670A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1139A>G MANE Select ENSP00000267163.4:p.Asn380Ser
ENST00000650461.1:c.1139A>G ENSP00000497193.1:p.Asn380Ser
ENST00000267163.4:c.1139A>G ENSP00000267163.4:p.Asn380Ser
NM_000321.2:c.1139A>G , LRG_517t1:c.1139A>G NP_000312.2:p.Asn380Ser
XM_011535171.1:c.878A>G XP_011533473.1:p.Asn293Ser
XM_011535171.2:c.878A>G XP_011533473.1:p.Asn293Ser
XR_002957522.1:n.121+744T>C
NM_000321.3:c.1139A>G MANE Select NP_000312.2:p.Asn380Ser
Search 100 bp 5'
Search 100 bp 3'