Canonical Allele Identifier: CA483558308
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138123394
MyVariant Identifiers: chr13:g.48942717A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48368581A>C , CM000675.2:g.48368581A>C GRCh38
NC_000013.10:g.48942717A>C , CM000675.1:g.48942717A>C GRCh37
NC_000013.9:g.47840718A>C NCBI36
NG_009009.1:g.69835A>C , LRG_517:g.69835A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1104A>C MANE Select ENSP00000267163.4:p.Val368=
ENST00000650461.1:c.1104A>C ENSP00000497193.1:p.Val368=
ENST00000267163.4:c.1104A>C ENSP00000267163.4:p.Val368=
NM_000321.2:c.1104A>C , LRG_517t1:c.1104A>C NP_000312.2:p.Val368=
XM_011535171.1:c.843A>C XP_011533473.1:p.Val281=
XM_011535171.2:c.843A>C XP_011533473.1:p.Val281=
XR_002957522.1:n.122-3605T>G
NM_000321.3:c.1104A>C MANE Select NP_000312.2:p.Val368=
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