Canonical Allele Identifier: CA388159375
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 575373
ClinVar RCV Id: RCV000697565 RCV001026741
dbSNP Id: rs1232080974
gnomAD v2: 13-48937002-A-G
gnomAD v4: 13-48362866-A-G
COSMIC: COSM363247
MyVariant Identifiers: chr13:g.48937002A>G (hg19) chr13:g.48362866A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48362866A>G , CM000675.2:g.48362866A>G GRCh38
NC_000013.10:g.48937002A>G , CM000675.1:g.48937002A>G GRCh37
NC_000013.9:g.47835003A>G NCBI36
NG_009009.1:g.64120A>G , LRG_517:g.64120A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.770A>G MANE Select ENSP00000267163.4:p.Gln257Arg
ENST00000650461.1:c.770A>G ENSP00000497193.1:p.Gln257Arg
ENST00000267163.4:c.770A>G ENSP00000267163.4:p.Gln257Arg
ENST00000467505.5:c.*138A>G ENSP00000434702.1:n.*138A>G
NM_000321.2:c.770A>G , LRG_517t1:c.770A>G NP_000312.2:p.Gln257Arg
XM_011535171.1:c.509A>G XP_011533473.1:p.Gln170Arg
XM_011535171.2:c.509A>G XP_011533473.1:p.Gln170Arg
NM_000321.3:c.770A>G MANE Select NP_000312.2:p.Gln257Arg
Search 100 bp 5'
Search 100 bp 3'