gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33280328 (AFR)
Genomes Max Group AF
0.33201948 (AFR)
Exomes Max Group AF
0.33013453 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158709665T>C , CM000666.2:g.158709665T>C | GRCh38 |
| NC_000004.11:g.159630817T>C , CM000666.1:g.159630817T>C | GRCh37 |
| NC_000004.10:g.159850267T>C | NCBI36 |
| NG_007078.2:g.42324T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.4528T>C (ETFDH) | ||
| ENST00000682178.1:n.4024T>C (ETFDH) | ||
| ENST00000682345.1:c.*2692T>C (ETFDH) | ENSP00000508122.1:n.*2692T>C | |
| ENST00000682452.1:n.3323T>C (ETFDH) | ||
| ENST00000682456.1:c.*1138T>C (ETFDH) | ENSP00000508240.1:n.*1138T>C | |
| ENST00000682566.1:n.3775T>C (ETFDH) | ||
| ENST00000682613.1:n.3304T>C (ETFDH) | ||
| ENST00000682734.1:c.*1138T>C (ETFDH) | ENSP00000507860.1:n.*1138T>C | |
| ENST00000682820.1:n.3029T>C (ETFDH) | ||
| ENST00000683004.1:c.*2685T>C (ETFDH) | ENSP00000506936.1:n.*2685T>C | |
| ENST00000683079.1:c.*2417T>C (ETFDH) | ENSP00000507296.1:n.*2417T>C | |
| ENST00000683081.1:c.*2829T>C (ETFDH) | ENSP00000507722.1:n.*2829T>C | |
| ENST00000683181.1:n.2271T>C (ETFDH) | ||
| ENST00000683209.1:n.5318T>C (ETFDH) | ||
| ENST00000683305.1:c.*1138T>C (ETFDH) | ENSP00000508043.1:n.*1138T>C | |
| ENST00000683448.1:c.*1912T>C (ETFDH) | ENSP00000506931.1:n.*1912T>C | |
| ENST00000683478.1:c.*2343T>C (ETFDH) | ENSP00000507793.1:n.*2343T>C | |
| ENST00000683483.1:c.*1138T>C (ETFDH) | ENSP00000507719.1:n.*1138T>C | |
| ENST00000683751.1:c.*1138T>C (ETFDH) | ENSP00000506944.1:n.*1138T>C | |
| ENST00000684036.1:c.*1138T>C (ETFDH) | ENSP00000507276.1:n.*1138T>C | |
| ENST00000684129.1:c.*1138T>C (ETFDH) | ENSP00000507174.1:n.*1138T>C | |
| ENST00000684209.1:n.3367T>C (ETFDH) | ||
| ENST00000684296.1:c.*1912T>C (ETFDH) | ENSP00000507740.1:n.*1912T>C | |
| ENST00000684505.1:c.*1138T>C (ETFDH) | ENSP00000508237.1:n.*1138T>C | |
| ENST00000684552.1:c.*4411T>C (ETFDH) | ENSP00000506899.1:n.*4411T>C | |
| ENST00000684611.1:n.4720T>C (ETFDH) | ||
| ENST00000684627.1:c.*1138T>C (ETFDH) | ENSP00000507471.1:n.*1138T>C | |
| ENST00000684641.1:c.*1138T>C (ETFDH) | ENSP00000507642.1:n.*1138T>C | |
| ENST00000684675.1:c.*1839T>C (ETFDH) | ENSP00000506934.1:n.*1839T>C | |
| ENST00000684749.1:n.3061T>C (ETFDH) | ||
| ENST00000307720.4:c.*71A>G (PPID) MANE Select | ENSP00000303754.3:n.*71A>G | |
| ENST00000307720.3:c.*71A>G (PPID) | ENSP00000303754.3:n.*71A>G | |
| NM_005038.2:c.*71A>G (PPID) | NP_005029.1:n.*71A>G | |
| NM_005038.3:c.*71A>G (PPID) MANE Select | NP_005029.1:n.*71A>G |