Canonical Allele Identifier: CA033872
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1139935
ClinVar RCV Id: RCV001476804 RCV002421092
dbSNP Id: rs113432974
ExAC: 13:49033924 C / T
gnomAD v2: 13-49033924-C-T
gnomAD v3: 13-48459788-C-T
gnomAD v4: 13-48459788-C-T
MyVariant Identifiers: chr13:g.49033924C>T (hg19) chr13:g.48459788C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459788C>T , CM000675.2:g.48459788C>T GRCh38
NC_000013.10:g.49033924C>T , CM000675.1:g.49033924C>T GRCh37
NC_000013.9:g.47931925C>T NCBI36
NG_009009.1:g.161042C>T , LRG_517:g.161042C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2061C>T MANE Select ENSP00000267163.4:p.Thr687=
ENST00000643064.1:c.194+78345C>T
ENST00000650461.1:c.2061C>T ENSP00000497193.1:p.Thr687=
ENST00000267163.4:c.2061C>T ENSP00000267163.4:p.Thr687=
NM_000321.2:c.2061C>T , LRG_517t1:c.2061C>T NP_000312.2:p.Thr687=
XM_011535171.1:c.1800C>T XP_011533473.1:p.Thr600=
XM_011535171.2:c.1800C>T XP_011533473.1:p.Thr600=
NM_000321.3:c.2061C>T MANE Select NP_000312.2:p.Thr687=
Search 100 bp 5'
Search 100 bp 3'