Linked Data
ClinVar Variation Id:
335363
dbSNP Id:
rs13432453
gnomAD v2:
2-26413609-T-A
gnomAD v3:
2-26190740-T-A
gnomAD v4:
2-26190740-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26190740T>A , CM000664.2:g.26190740T>A | GRCh38 |
| NC_000002.11:g.26413609T>A , CM000664.1:g.26413609T>A | GRCh37 |
| NC_000002.10:g.26267113T>A | NCBI36 |
| NG_007121.1:g.58881A>T | |
| NG_007121.2:g.58882A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.*510A>T (HADHA) MANE Select | ENSP00000370023.3:n.*510A>T | |
| ENST00000492433.2:c.*510A>T (HADHA) | ENSP00000438039.2:n.*510A>T | |
| ENST00000643057.1:c.*2780A>T (HADHA) | ENSP00000493761.1:n.*2780A>T | |
| ENST00000644428.1:c.*1426A>T (HADHA) | ENSP00000495560.1:n.*1426A>T | |
| ENST00000380649.7:c.*510A>T (HADHA) | ENSP00000370023.3:n.*510A>T | |
| NM_000182.4:c.*510A>T (HADHA) | NP_000173.2:n.*510A>T | |
| XM_011532567.1:c.1683+3425T>A (GAREM2) | XP_011530869.1:n.1683+3425T>A | |
| XM_011532567.3:c.1683+3425T>A (GAREM2) | XP_011530869.1:n.1683+3425T>A | |
| NM_000182.5:c.*510A>T (HADHA) MANE Select | NP_000173.2:n.*510A>T |