Canonical Allele Identifier: CA249308044
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1187707
ClinVar RCV Id: RCV001547244
dbSNP Id: rs4151595
gnomAD v2: 13-49033668-T-C
gnomAD v3: 13-48459532-T-C
gnomAD v4: 13-48459532-T-C
MyVariant Identifiers: chr13:g.49033668T>C (hg19) chr13:g.48459532T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459532T>C , CM000675.2:g.48459532T>C GRCh38
NC_000013.10:g.49033668T>C , CM000675.1:g.49033668T>C GRCh37
NC_000013.9:g.47931669T>C NCBI36
NG_009009.1:g.160786T>C , LRG_517:g.160786T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1961-156T>C MANE Select ENSP00000267163.4:n.1961-156T>C
ENST00000643064.1:c.194+78089T>C
ENST00000650461.1:c.1961-156T>C ENSP00000497193.1:n.1961-156T>C
ENST00000267163.4:c.1961-156T>C ENSP00000267163.4:n.1961-156T>C
NM_000321.2:c.1961-156T>C , LRG_517t1:c.1961-156T>C NP_000312.2:n.1961-156T>C
XM_011535171.1:c.1700-156T>C XP_011533473.1:n.1700-156T>C
XM_011535171.2:c.1700-156T>C XP_011533473.1:n.1700-156T>C
NM_000321.3:c.1961-156T>C MANE Select NP_000312.2:n.1961-156T>C
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