Canonical Allele Identifier: CA016179
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 161386
ClinVar RCV Id: RCV000148870 RCV000408969 RCV000455540 RCV000477264 RCV000492780 RCV001527323 RCV003474796
dbSNP Id: rs74315369
ExAC: 1:17371377 G / C
gnomAD v2: 1-17371377-G-C
gnomAD v3: 1-17044882-G-C
gnomAD v4: 1-17044882-G-C
MyVariant Identifiers: chr1:g.17371377G>C (hg19) chr1:g.17044882G>C (hg38)
PubMed: PMID:21979946 PMID:25637381
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.-93C>G ENSP00000481376.2:n.-93C>G
ENST00000491274.6:c.37C>G ENSP00000480482.2:p.Arg13Gly
ENST00000375499.8:c.79C>G MANE Select ENSP00000364649.3:p.Arg27Gly
ENST00000375499.7:c.79C>G ENSP00000364649.3:p.Arg27Gly
ENST00000463045.2:c.-93C>G ENSP00000481376.1:n.-93C>G
ENST00000466613.2:n.91C>G
ENST00000485515.5:n.67C>G
ENST00000491274.5:c.37C>G ENSP00000480482.1:p.Arg13Gly
NM_003000.2:c.79C>G , LRG_316t1:c.79C>G NP_002991.2:p.Arg27Gly
NM_003000.3:c.79C>G MANE Select NP_002991.2:p.Arg27Gly
Search 100 bp 5'
Search 100 bp 3'