Linked Data
dbSNP Id:
rs368275152
ExAC:
2:26414098 T / C
gnomAD v2:
2-26414098-T-C
gnomAD v3:
2-26191229-T-C
gnomAD v4:
2-26191229-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191229T>C , CM000664.2:g.26191229T>C | GRCh38 |
| NC_000002.11:g.26414098T>C , CM000664.1:g.26414098T>C | GRCh37 |
| NC_000002.10:g.26267602T>C | NCBI36 |
| NG_007121.1:g.58392A>G | |
| NG_007121.2:g.58393A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.*21A>G (HADHA) MANE Select | ENSP00000370023.3:n.*21A>G | |
| ENST00000492433.2:c.*21A>G (HADHA) | ENSP00000438039.2:n.*21A>G | |
| ENST00000643057.1:c.*2291A>G (HADHA) | ENSP00000493761.1:n.*2291A>G | |
| ENST00000643063.1:c.*1359A>G (HADHA) | ENSP00000495353.1:n.*1359A>G | |
| ENST00000643233.1:c.*2204A>G (HADHA) | ENSP00000493880.1:n.*2204A>G | |
| ENST00000644428.1:c.*937A>G (HADHA) | ENSP00000495560.1:n.*937A>G | |
| ENST00000645274.1:c.*21A>G (HADHA) | ENSP00000493996.1:n.*21A>G | |
| ENST00000646031.1:c.1672A>G (HADHA) | ||
| ENST00000380649.7:c.*21A>G (HADHA) | ENSP00000370023.3:n.*21A>G | |
| NM_000182.4:c.*21A>G (HADHA) | NP_000173.2:n.*21A>G | |
| XM_011532567.1:c.1683+3914T>C (GAREM2) | XP_011530869.1:n.1683+3914T>C | |
| XM_011532567.3:c.1683+3914T>C (GAREM2) | XP_011530869.1:n.1683+3914T>C | |
| NM_000182.5:c.*21A>G (HADHA) MANE Select | NP_000173.2:n.*21A>G |