Linked Data
ClinVar Variation Id:
213993
dbSNP Id:
rs548405278
ExAC:
3:128628967 T / C
gnomAD v2:
3-128628967-T-C
gnomAD v3:
3-128910124-T-C
gnomAD v4:
3-128910124-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128910124T>C , CM000665.2:g.128910124T>C | GRCh38 |
| NC_000003.11:g.128628967T>C , CM000665.1:g.128628967T>C | GRCh37 |
| NC_000003.10:g.130111657T>C | NCBI36 |
| NG_017064.1:g.35635T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645291.3:c.*175A>G (CFAP92) MANE Select | ENSP00000496592.2:n.*175A>G | |
| ENST00000308982.12:c.1667T>C (ACAD9) MANE Select | ENSP00000312618.7:p.Ile556Thr | |
| ENST00000511325.2:n.2344T>C (ACAD9) | ||
| ENST00000645291.2:c.*175A>G (CFAP92) | ENSP00000496592.2:n.*175A>G | |
| ENST00000679399.1:c.*1838T>C (ACAD9) | ENSP00000505434.1:n.*1838T>C | |
| ENST00000679431.1:c.*1543T>C (ACAD9) | ENSP00000506440.1:n.*1543T>C | |
| ENST00000679613.1:c.1667T>C (ACAD9) | ENSP00000504971.1:p.Ile556Thr | |
| ENST00000679715.1:c.1298T>C (ACAD9) | ENSP00000506228.1:p.Ile433Thr | |
| ENST00000679824.1:c.*2973T>C (ACAD9) | ENSP00000505516.1:n.*2973T>C | |
| ENST00000679990.1:n.2501T>C (ACAD9) | ||
| ENST00000680636.1:c.1761T>C (ACAD9) | ENSP00000504886.1:p.His587= | |
| ENST00000680638.1:n.2019T>C (ACAD9) | ||
| ENST00000680744.1:c.*1020T>C (ACAD9) | ENSP00000505243.1:n.*1020T>C | |
| ENST00000680764.1:c.*3071T>C (ACAD9) | ENSP00000505126.1:n.*3071T>C | |
| ENST00000681319.1:n.2453T>C (ACAD9) | ||
| ENST00000681367.1:c.1667T>C (ACAD9) | ENSP00000505309.1:p.Ile556Thr | |
| ENST00000681552.1:c.1150-2383T>C (ACAD9) | ENSP00000505699.1:n.1150-2383T>C | |
| ENST00000681583.1:c.1667T>C (ACAD9) | ENSP00000506340.1:p.Ile556Thr | |
| ENST00000681585.1:c.*286T>C (ACAD9) | ENSP00000506316.1:n.*286T>C | |
| ENST00000681784.1:n.2344T>C (ACAD9) | ||
| ENST00000681886.1:c.*1459T>C (ACAD9) | ENSP00000506500.1:n.*1459T>C | |
| ENST00000308982.11:c.1667T>C (ACAD9) | ENSP00000312618.7:p.Ile556Thr | |
| ENST00000505867.5:c.*1467T>C (ACAD9) | ENSP00000425346.1:n.*1467T>C | |
| ENST00000508239.1:c.*175A>G | ENSP00000424951.1:n.*175A>G | |
| ENST00000508971.1:c.956T>C (ACAD9) | ENSP00000422683.1:p.Ile319Thr | |
| ENST00000511227.5:c.*1561T>C (ACAD9) | ENSP00000425226.1:n.*1561T>C | |
| ENST00000511325.1:n.1247T>C (ACAD9) | ||
| ENST00000511438.5:c.*175A>G (CFAP92) | ENSP00000426217.1:n.*175A>G | |
| ENST00000511526.5:n.1200T>C (ACAD9) | ||
| ENST00000620948.3:c.96T>C (ACAD9) | ENSP00000478191.1:p.His32= | |
| NM_014049.4:c.1667T>C (ACAD9) | NP_054768.2:p.Ile556Thr | |
| NR_033426.1:n.2045T>C (ACAD9) | ||
| XM_011512742.1:c.1298T>C (ACAD9) | XP_011511044.1:p.Ile433Thr | |
| NM_001348520.1:c.*175A>G (CFAP92) | NP_001335449.1:n.*175A>G | |
| NM_001348521.1:c.*175A>G (CFAP92) | NP_001335450.1:n.*175A>G | |
| XM_024453484.1:c.1298T>C (ACAD9) | XP_024309252.1:p.Ile433Thr | |
| XM_024453485.1:c.1298T>C (ACAD9) | XP_024309253.1:p.Ile433Thr | |
| XR_427367.3:n.1743T>C (ACAD9) | ||
| NM_014049.5:c.1667T>C (ACAD9) MANE Select | NP_054768.2:p.Ile556Thr | |
| NM_001348520.2:c.*175A>G (CFAP92) | NP_001335449.1:n.*175A>G | |
| NM_001348521.2:c.*175A>G (CFAP92) | NP_001335450.1:n.*175A>G | |
| NM_001394090.1:c.*175A>G (CFAP92) MANE Select | NP_001381019.1:n.*175A>G | |
| NR_033426.2:n.1915T>C (ACAD9) |