Linked Data
dbSNP Id:
rs375322919
ExAC:
2:26414093 C / T
gnomAD v2:
2-26414093-C-T
gnomAD v4:
2-26191224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191224C>T , CM000664.2:g.26191224C>T | GRCh38 |
| NC_000002.11:g.26414093C>T , CM000664.1:g.26414093C>T | GRCh37 |
| NC_000002.10:g.26267597C>T | NCBI36 |
| NG_007121.1:g.58397G>A | |
| NG_007121.2:g.58398G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.*26G>A (HADHA) MANE Select | ENSP00000370023.3:n.*26G>A | |
| ENST00000492433.2:c.*26G>A (HADHA) | ENSP00000438039.2:n.*26G>A | |
| ENST00000643057.1:c.*2296G>A (HADHA) | ENSP00000493761.1:n.*2296G>A | |
| ENST00000643063.1:c.*1364G>A (HADHA) | ENSP00000495353.1:n.*1364G>A | |
| ENST00000643233.1:c.*2209G>A (HADHA) | ENSP00000493880.1:n.*2209G>A | |
| ENST00000644428.1:c.*942G>A (HADHA) | ENSP00000495560.1:n.*942G>A | |
| ENST00000645274.1:c.*26G>A (HADHA) | ENSP00000493996.1:n.*26G>A | |
| ENST00000646031.1:c.1677G>A (HADHA) | ||
| ENST00000380649.7:c.*26G>A (HADHA) | ENSP00000370023.3:n.*26G>A | |
| NM_000182.4:c.*26G>A (HADHA) | NP_000173.2:n.*26G>A | |
| XM_011532567.1:c.1683+3909C>T (GAREM2) | XP_011530869.1:n.1683+3909C>T | |
| XM_011532567.3:c.1683+3909C>T (GAREM2) | XP_011530869.1:n.1683+3909C>T | |
| NM_000182.5:c.*26G>A (HADHA) MANE Select | NP_000173.2:n.*26G>A |