Canonical Allele Identifier: CA016187
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 12783
ClinVar RCV Id: RCV000013623 RCV000129929 RCV000471400 RCV000505368 RCV000657585
dbSNP Id: rs74315369
ExAC: 1:17371377 G / A
gnomAD v2: 1-17371377-G-A
gnomAD v3: 1-17044882-G-A
gnomAD v4: 1-17044882-G-A
MyVariant Identifiers: chr1:g.17371377G>A (hg19) chr1:g.17044882G>A (hg38)
PubMed: PMID:12000816 PMID:12362046 PMID:14685938 PMID:15328326 PMID:19415531 PMID:25215250 PMID:25972245
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17044882G>A , CM000663.2:g.17044882G>A GRCh38
NC_000001.10:g.17371377G>A , CM000663.1:g.17371377G>A GRCh37
NC_000001.9:g.17243964G>A NCBI36
NG_012340.1:g.14289C>T , LRG_316:g.14289C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.-93C>T ENSP00000481376.2:n.-93C>T
ENST00000491274.6:c.37C>T ENSP00000480482.2:p.Arg13Ter
ENST00000375499.8:c.79C>T MANE Select ENSP00000364649.3:p.Arg27Ter
ENST00000375499.7:c.79C>T ENSP00000364649.3:p.Arg27Ter
ENST00000463045.2:c.-93C>T ENSP00000481376.1:n.-93C>T
ENST00000466613.2:n.91C>T
ENST00000485515.5:n.67C>T
ENST00000491274.5:c.37C>T ENSP00000480482.1:p.Arg13Ter
NM_003000.2:c.79C>T , LRG_316t1:c.79C>T NP_002991.2:p.Arg27Ter
NM_003000.3:c.79C>T MANE Select NP_002991.2:p.Arg27Ter
Search 100 bp 5'
Search 100 bp 3'