Canonical Allele Identifier: CA015910
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 12792
ClinVar RCV Id: RCV001269360
dbSNP Id: rs33927012
ExAC: 1:17354297 A / G
gnomAD v2: 1-17354297-A-G
gnomAD v3: 1-17027802-A-G
gnomAD v4: 1-17027802-A-G
MyVariant Identifiers: chr1:g.17354297A>G (hg19) chr1:g.17027802A>G (hg38)
PubMed: PMID:14985401 PMID:16322339 PMID:16912137 PMID:17102082 PMID:17102083 PMID:17298551 PMID:17639058 PMID:18551016 PMID:18678321 PMID:19399650 PMID:19802898 PMID:21979946 PMID:22703879 PMID:23666964 PMID:23891399 PMID:24728327 PMID:25333069 PMID:26092435
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027802A>G , CM000663.2:g.17027802A>G GRCh38
NC_000001.10:g.17354297A>G , CM000663.1:g.17354297A>G GRCh37
NC_000001.9:g.17226884A>G NCBI36
NG_012340.1:g.31369T>C , LRG_316:g.31369T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.316T>C ENSP00000481376.2:p.Ser106Pro
ENST00000491274.6:c.445T>C ENSP00000480482.2:p.Ser149Pro
ENST00000375499.8:c.487T>C MANE Select ENSP00000364649.3:p.Ser163Pro
ENST00000375499.7:c.487T>C ENSP00000364649.3:p.Ser163Pro
ENST00000463045.2:c.316T>C ENSP00000481376.1:p.Ser106Pro
ENST00000475506.1:n.404T>C
ENST00000485515.5:n.421T>C
ENST00000491274.5:c.445T>C ENSP00000480482.1:p.Ser149Pro
NM_003000.2:c.487T>C , LRG_316t1:c.487T>C NP_002991.2:p.Ser163Pro
NM_003000.3:c.487T>C MANE Select NP_002991.2:p.Ser163Pro
Search 100 bp 5'
Search 100 bp 3'