Canonical Allele Identifier: CA338230567
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2574076
ClinVar RCV Id: RCV003485896
dbSNP Id: rs1570963414
MyVariant Identifiers: chr1:g.17380441A>C (hg19) chr1:g.17053946A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053946A>C , CM000663.2:g.17053946A>C GRCh38
NC_000001.10:g.17380441A>C , CM000663.1:g.17380441A>C GRCh37
NC_000001.9:g.17253028A>C NCBI36
NG_012340.1:g.5225T>G , LRG_316:g.5225T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.72+2T>G MANE Select ENSP00000364649.3:n.72+2T>G
ENST00000375499.7:c.72+2T>G ENSP00000364649.3:n.72+2T>G
ENST00000466613.2:n.84+2T>G
ENST00000485515.5:n.60+2T>G
NM_003000.2:c.72+2T>G , LRG_316t1:c.72+2T>G NP_002991.2:n.72+2T>G
NM_003000.3:c.72+2T>G MANE Select NP_002991.2:n.72+2T>G
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