Linked Data
dbSNP Id:
rs763085690
ExAC:
2:26414349 A / C
gnomAD v2:
2-26414349-A-C
gnomAD v4:
2-26191480-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191480A>C , CM000664.2:g.26191480A>C | GRCh38 |
| NC_000002.11:g.26414349A>C , CM000664.1:g.26414349A>C | GRCh37 |
| NC_000002.10:g.26267853A>C | NCBI36 |
| NG_007121.1:g.58141T>G | |
| NG_007121.2:g.58142T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2146+3T>G (HADHA) MANE Select | ENSP00000370023.3:n.2146+3T>G | |
| ENST00000492433.2:c.2149T>G (HADHA) | ENSP00000438039.2:p.Trp717Gly | |
| ENST00000643057.1:c.*2040T>G (HADHA) | ENSP00000493761.1:n.*2040T>G | |
| ENST00000643063.1:c.*1192+3T>G (HADHA) | ENSP00000495353.1:n.*1192+3T>G | |
| ENST00000643233.1:c.*2037+3T>G (HADHA) | ENSP00000493880.1:n.*2037+3T>G | |
| ENST00000644428.1:c.*770+3T>G (HADHA) | ENSP00000495560.1:n.*770+3T>G | |
| ENST00000645274.1:c.2041+3T>G (HADHA) | ENSP00000493996.1:n.2041+3T>G | |
| ENST00000646031.1:c.1505+3T>G (HADHA) | ||
| ENST00000646483.1:c.2012+3T>G (HADHA) | ENSP00000496185.1:n.2012+3T>G | |
| ENST00000380649.7:c.2146+3T>G (HADHA) | ENSP00000370023.3:n.2146+3T>G | |
| ENST00000492433.1:c.607T>G (HADHA) | ENSP00000438039.1:p.Trp203Gly | |
| NM_000182.4:c.2146+3T>G (HADHA) | NP_000173.2:n.2146+3T>G | |
| XM_011532567.1:c.1683+4165A>C (GAREM2) | XP_011530869.1:n.1683+4165A>C | |
| XM_011532567.3:c.1683+4165A>C (GAREM2) | XP_011530869.1:n.1683+4165A>C | |
| NM_000182.5:c.2146+3T>G (HADHA) MANE Select | NP_000173.2:n.2146+3T>G |