Linked Data
dbSNP Id:
rs200315230
gnomAD v2:
2-26424140-A-G
gnomAD v3:
2-26201271-A-G
gnomAD v4:
2-26201271-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26201271A>G , CM000664.2:g.26201271A>G | GRCh38 |
| NC_000002.11:g.26424140A>G , CM000664.1:g.26424140A>G | GRCh37 |
| NC_000002.10:g.26277644A>G | NCBI36 |
| NG_007121.1:g.48350T>C | |
| NG_007121.2:g.48351T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1270T>C (HADHA) MANE Select | ENSP00000370023.3:p.Ser424Pro | |
| ENST00000492433.2:c.1270T>C (HADHA) | ENSP00000438039.2:p.Ser424Pro | |
| ENST00000643057.1:c.*1161T>C (HADHA) | ENSP00000493761.1:n.*1161T>C | |
| ENST00000643063.1:c.*316T>C (HADHA) | ENSP00000495353.1:n.*316T>C | |
| ENST00000643233.1:c.*1161T>C (HADHA) | ENSP00000493880.1:n.*1161T>C | |
| ENST00000644428.1:c.1270T>C (HADHA) | ENSP00000495560.1:p.Ser424Pro | |
| ENST00000645274.1:c.1165T>C (HADHA) | ENSP00000493996.1:p.Ser389Pro | |
| ENST00000646031.1:c.629T>C (HADHA) | ||
| ENST00000646483.1:c.1136T>C (HADHA) | ENSP00000496185.1:n.1136T>C | |
| ENST00000380649.7:c.1270T>C (HADHA) | ENSP00000370023.3:p.Ser424Pro | |
| NM_000182.4:c.1270T>C (HADHA) | NP_000173.2:p.Ser424Pro | |
| XM_011532567.1:c.1684-962A>G (GAREM2) | XP_011530869.1:n.1684-962A>G | |
| XM_011532567.3:c.1684-962A>G (GAREM2) | XP_011530869.1:n.1684-962A>G | |
| NM_000182.5:c.1270T>C (HADHA) MANE Select | NP_000173.2:p.Ser424Pro |