Linked Data
dbSNP Id:
rs1308806038
gnomAD v2:
2-26416600-G-C
gnomAD v3:
2-26193731-G-C
gnomAD v4:
2-26193731-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26193731G>C , CM000664.2:g.26193731G>C | GRCh38 |
| NC_000002.11:g.26416600G>C , CM000664.1:g.26416600G>C | GRCh37 |
| NC_000002.10:g.26270104G>C | NCBI36 |
| NG_007121.1:g.55890C>G | |
| NG_007121.2:g.55891C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1731C>G (HADHA) MANE Select | ENSP00000370023.3:p.Ser577Arg | |
| ENST00000492433.2:c.1731C>G (HADHA) | ENSP00000438039.2:p.Ser577Arg | |
| ENST00000643057.1:c.*1622C>G (HADHA) | ENSP00000493761.1:n.*1622C>G | |
| ENST00000643063.1:c.*777C>G (HADHA) | ENSP00000495353.1:n.*777C>G | |
| ENST00000643233.1:c.*1622C>G (HADHA) | ENSP00000493880.1:n.*1622C>G | |
| ENST00000644428.1:c.*355C>G (HADHA) | ENSP00000495560.1:n.*355C>G | |
| ENST00000645274.1:c.1626C>G (HADHA) | ENSP00000493996.1:p.Ser542Arg | |
| ENST00000646031.1:c.1090C>G (HADHA) | ||
| ENST00000646483.1:c.1597C>G (HADHA) | ENSP00000496185.1:n.1597C>G | |
| ENST00000380649.7:c.1731C>G (HADHA) | ENSP00000370023.3:p.Ser577Arg | |
| ENST00000492433.1:c.189C>G (HADHA) | ENSP00000438039.1:p.Ser63Arg | |
| NM_000182.4:c.1731C>G (HADHA) | NP_000173.2:p.Ser577Arg | |
| XM_011532567.1:c.1683+6416G>C (GAREM2) | XP_011530869.1:n.1683+6416G>C | |
| XM_011532567.3:c.1683+6416G>C (GAREM2) | XP_011530869.1:n.1683+6416G>C | |
| NM_000182.5:c.1731C>G (HADHA) MANE Select | NP_000173.2:p.Ser577Arg |