Canonical Allele Identifier: CA015982
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 142047
ClinVar RCV Id: RCV000130852 RCV000505338 RCV002514739
dbSNP Id: rs397516835
MyVariant Identifiers: chr1:g.17350535C>T (hg19) chr1:g.17024040C>T (hg38)
PubMed: PMID:7547971 PMID:11850430 PMID:15989954 PMID:19261679 PMID:22904323 PMID:23640968
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17024040C>T , CM000663.2:g.17024040C>T GRCh38
NC_000001.10:g.17350535C>T , CM000663.1:g.17350535C>T GRCh37
NC_000001.9:g.17223122C>T NCBI36
NG_012340.1:g.35131G>A , LRG_316:g.35131G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.404G>A ENSP00000481376.2:p.Cys135Tyr
ENST00000491274.6:c.533G>A ENSP00000480482.2:p.Cys178Tyr
ENST00000375499.8:c.575G>A MANE Select ENSP00000364649.3:p.Cys192Tyr
ENST00000375499.7:c.575G>A ENSP00000364649.3:p.Cys192Tyr
ENST00000485515.5:n.509G>A
ENST00000491274.5:c.533G>A ENSP00000480482.1:p.Cys178Tyr
NM_003000.2:c.575G>A , LRG_316t1:c.575G>A NP_002991.2:p.Cys192Tyr
NM_003000.3:c.575G>A MANE Select NP_002991.2:p.Cys192Tyr
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