Canonical Allele Identifier: CA338230894
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 428918
ClinVar RCV Id: RCV000492218 RCV000505307 RCV000692227
dbSNP Id: rs1131691049
MyVariant Identifiers: chr1:g.17380514T>A (hg19) chr1:g.17054019T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17054019T>A , CM000663.2:g.17054019T>A GRCh38
NC_000001.10:g.17380514T>A , CM000663.1:g.17380514T>A GRCh37
NC_000001.9:g.17253101T>A NCBI36
NG_012340.1:g.5152A>T , LRG_316:g.5152A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.1A>T MANE Select ENSP00000364649.3:p.Met1Leu
ENST00000375499.7:c.1A>T ENSP00000364649.3:p.Met1Leu
ENST00000466613.2:n.13A>T
NM_003000.2:c.1A>T , LRG_316t1:c.1A>T NP_002991.2:p.Met1Leu
NM_003000.3:c.1A>T MANE Select NP_002991.2:p.Met1Leu
Search 100 bp 5'
Search 100 bp 3'