Canonical Allele Identifier: CA016171
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 183795
ClinVar RCV Id: RCV000162580 RCV001040032 RCV003514319
dbSNP Id: rs786201085
gnomAD v4: 1-17022615-C-T
MyVariant Identifiers: chr1:g.17349110C>T (hg19) chr1:g.17022615C>T (hg38)
PubMed: PMID:16314641 PMID:17652212 PMID:19454582 PMID:19763184 PMID:22904323
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022615C>T , CM000663.2:g.17022615C>T GRCh38
NC_000001.10:g.17349110C>T , CM000663.1:g.17349110C>T GRCh37
NC_000001.9:g.17221697C>T NCBI36
NG_012340.1:g.36556G>A , LRG_316:g.36556G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.587G>A ENSP00000481376.2:p.Cys196Tyr
ENST00000491274.6:c.716G>A ENSP00000480482.2:p.Cys239Tyr
ENST00000375499.8:c.758G>A MANE Select ENSP00000364649.3:p.Cys253Tyr
ENST00000375499.7:c.758G>A ENSP00000364649.3:p.Cys253Tyr
ENST00000475049.5:n.183G>A
ENST00000485092.5:n.422G>A
ENST00000485515.5:n.692G>A
NM_003000.2:c.758G>A , LRG_316t1:c.758G>A NP_002991.2:p.Cys253Tyr
NM_003000.3:c.758G>A MANE Select NP_002991.2:p.Cys253Tyr
Search 100 bp 5'
Search 100 bp 3'