Canonical Allele Identifier: CA483559013
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1784575
ClinVar RCV Id: RCV002419604
dbSNP Id: rs746596154
gnomAD v3: 13-48459749-A-G
gnomAD v4: 13-48459749-A-G
MyVariant Identifiers: chr13:g.49033885A>G (hg19) chr13:g.48459749A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459749A>G , CM000675.2:g.48459749A>G GRCh38
NC_000013.10:g.49033885A>G , CM000675.1:g.49033885A>G GRCh37
NC_000013.9:g.47931886A>G NCBI36
NG_009009.1:g.161003A>G , LRG_517:g.161003A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2022A>G MANE Select ENSP00000267163.4:p.Pro674=
ENST00000643064.1:c.194+78306A>G
ENST00000650461.1:c.2022A>G ENSP00000497193.1:p.Pro674=
ENST00000267163.4:c.2022A>G ENSP00000267163.4:p.Pro674=
NM_000321.2:c.2022A>G , LRG_517t1:c.2022A>G NP_000312.2:p.Pro674=
XM_011535171.1:c.1761A>G XP_011533473.1:p.Pro587=
XM_011535171.2:c.1761A>G XP_011533473.1:p.Pro587=
NM_000321.3:c.2022A>G MANE Select NP_000312.2:p.Pro674=
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