Canonical Allele Identifier: CA015827
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 41770
ClinVar RCV Id: RCV000034687 RCV000163306 RCV000230410 RCV003387738 RCV003473253 RCV004534728
dbSNP Id: rs201585157
ExAC: 1:17355115 C / T
gnomAD v2: 1-17355115-C-T
gnomAD v3: 1-17028620-C-T
gnomAD v4: 1-17028620-C-T
COSMIC: COSM4988714
MyVariant Identifiers: chr1:g.17355115C>T (hg19) chr1:g.17028620C>T (hg38)
PubMed: PMID:22703879
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028620C>T , CM000663.2:g.17028620C>T GRCh38
NC_000001.10:g.17355115C>T , CM000663.1:g.17355115C>T GRCh37
NC_000001.9:g.17227702C>T NCBI36
NG_012340.1:g.30551G>A , LRG_316:g.30551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.232G>A ENSP00000481376.2:p.Val78Met
ENST00000491274.6:c.361G>A ENSP00000480482.2:p.Val121Met
ENST00000375499.8:c.403G>A MANE Select ENSP00000364649.3:p.Val135Met
ENST00000375499.7:c.403G>A ENSP00000364649.3:p.Val135Met
ENST00000463045.2:c.232G>A ENSP00000481376.1:p.Val78Met
ENST00000475506.1:n.320G>A
ENST00000485515.5:n.357+34G>A
ENST00000491274.5:c.361G>A ENSP00000480482.1:p.Val121Met
NM_003000.2:c.403G>A , LRG_316t1:c.403G>A NP_002991.2:p.Val135Met
NM_003000.3:c.403G>A MANE Select NP_002991.2:p.Val135Met
Search 100 bp 5'
Search 100 bp 3'