Canonical Allele Identifier: CA038639
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1623259
ClinVar RCV Id: RCV002104425
dbSNP Id: rs140706037
ExAC: 13:48923078 T / C
gnomAD v2: 13-48923078-T-C
gnomAD v3: 13-48348942-T-C
gnomAD v4: 13-48348942-T-C
MyVariant Identifiers: chr13:g.48923078T>C (hg19) chr13:g.48348942T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348942T>C , CM000675.2:g.48348942T>C GRCh38
NC_000013.10:g.48923078T>C , CM000675.1:g.48923078T>C GRCh37
NC_000013.9:g.47821079T>C NCBI36
NG_009009.1:g.50196T>C , LRG_517:g.50196T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-14T>C MANE Select ENSP00000267163.4:n.540-14T>C
ENST00000650461.1:c.540-14T>C ENSP00000497193.1:n.540-14T>C
ENST00000267163.4:c.540-14T>C ENSP00000267163.4:n.540-14T>C
ENST00000467505.5:c.138-11075T>C ENSP00000434702.1:n.138-11075T>C
ENST00000525036.1:n.702-14T>C
NM_000321.2:c.540-14T>C , LRG_517t1:c.540-14T>C NP_000312.2:n.540-14T>C
XM_011535171.1:c.279-14T>C XP_011533473.1:n.279-14T>C
XM_011535171.2:c.279-14T>C XP_011533473.1:n.279-14T>C
NM_000321.3:c.540-14T>C MANE Select NP_000312.2:n.540-14T>C
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