Revel Score:
ENST00000356239 (MANE Select)
0.037
ENST00000359028
0.037
ENST00000358100
0.037
ENST00000413120
0.037
ENST00000394534
0.037
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99563577 (NFE)
Genomes Max Group AF
0.99165376 (AFR)
Exomes Max Group AF
0.99568151 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92085597C>T , CM000669.2:g.92085597C>T | GRCh38 |
| NC_000007.13:g.91714911C>T , CM000669.1:g.91714911C>T | GRCh37 |
| NC_000007.12:g.91552847C>T | NCBI36 |
| NG_011623.1:g.149723C>T , LRG_331:g.149723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1357G>A (CYP51A1) | ENSP00000510368.1:p.Val453Ile | |
| ENST00000356239.8:c.8935C>T (AKAP9) MANE Select | ENSP00000348573.3:p.Pro2979Ser | |
| ENST00000359028.7:c.9007C>T (AKAP9) | ENSP00000351922.4:p.Pro3003Ser | |
| ENST00000394534.7:c.2428C>T (AKAP9) | ENSP00000378042.3:p.Pro810Ser | |
| ENST00000435423.2:n.775C>T (AKAP9) | ||
| ENST00000491695.2:c.3580C>T (AKAP9) | ENSP00000494626.2:p.Pro1194Ser | |
| ENST00000679448.1:c.8911C>T (AKAP9) | ENSP00000505889.1:p.Pro2971Ser | |
| ENST00000679457.1:c.8911C>T (AKAP9) | ENSP00000505450.1:p.Pro2971Ser | |
| ENST00000679474.1:n.9133C>T (AKAP9) | ||
| ENST00000679521.1:c.8881C>T (AKAP9) | ENSP00000505456.1:p.Pro2961Ser | |
| ENST00000679722.1:n.9157C>T (AKAP9) | ||
| ENST00000679821.1:c.8677C>T (AKAP9) | ENSP00000506040.1:p.Pro2893Ser | |
| ENST00000680047.1:n.9133C>T (AKAP9) | ||
| ENST00000680072.1:c.8758C>T (AKAP9) | ENSP00000506581.1:p.Pro2920Ser | |
| ENST00000680181.1:c.8842C>T (AKAP9) | ENSP00000505548.1:p.Pro2948Ser | |
| ENST00000680365.1:c.2428C>T (AKAP9) | ENSP00000506019.1:p.Pro810Ser | |
| ENST00000680513.1:c.8794C>T (AKAP9) | ENSP00000505284.1:p.Pro2932Ser | |
| ENST00000680534.1:c.8974C>T (AKAP9) | ENSP00000506674.1:p.Pro2992Ser | |
| ENST00000680766.1:c.8911C>T (AKAP9) | ENSP00000505204.1:p.Pro2971Ser | |
| ENST00000680952.1:c.8911C>T (AKAP9) | ENSP00000506407.1:p.Pro2971Ser | |
| ENST00000681216.1:c.2272C>T (AKAP9) | ENSP00000505551.1:p.Pro758Ser | |
| ENST00000681412.1:c.8935C>T (AKAP9) | ENSP00000506486.1:p.Pro2979Ser | |
| ENST00000681722.1:c.8911C>T (AKAP9) | ENSP00000506566.1:p.Pro2971Ser | |
| ENST00000356239.7:c.8935C>T (AKAP9) | ENSP00000348573.3:p.Pro2979Ser | |
| ENST00000358100.6:c.8794C>T (AKAP9) | ENSP00000350813.3:p.Pro2932Ser | |
| ENST00000359028.6:c.8944C>T (AKAP9) | ENSP00000351922.3:p.Pro2982Ser | |
| ENST00000394534.6:c.2473C>T (AKAP9) | ENSP00000378042.2:p.Pro825Ser | |
| ENST00000435423.1:c.369C>T (AKAP9) | ||
| NM_005751.4:c.8935C>T , LRG_331t1:c.8935C>T (AKAP9) | NP_005742.4:p.Pro2979Ser | |
| NM_147185.2:c.8911C>T (AKAP9) | NP_671714.1:p.Pro2971Ser | |
| XM_006715827.1:c.8794C>T (AKAP9) | XP_006715890.1:p.Pro2932Ser | |
| XM_011515709.1:c.9082C>T (AKAP9) | XP_011514011.1:p.Pro3028Ser | |
| XM_011515710.1:c.9106C>T (AKAP9) | XP_011514012.1:p.Pro3036Ser | |
| XM_011515711.1:c.9046C>T (AKAP9) | XP_011514013.1:p.Pro3016Ser | |
| XM_011515712.1:c.9043C>T (AKAP9) | XP_011514014.1:p.Pro3015Ser | |
| XM_011515713.1:c.9028C>T (AKAP9) | XP_011514015.1:p.Pro3010Ser | |
| XM_011515714.1:c.9067C>T (AKAP9) | XP_011514016.1:p.Pro3023Ser | |
| XM_011515716.1:c.8986C>T (AKAP9) | XP_011514018.1:p.Pro2996Ser | |
| XM_011515717.1:c.8941C>T (AKAP9) | XP_011514019.1:p.Pro2981Ser | |
| XM_011515718.1:c.8971C>T (AKAP9) | XP_011514020.1:p.Pro2991Ser | |
| XM_011515719.1:c.8947C>T (AKAP9) | XP_011514021.1:p.Pro2983Ser | |
| XM_011515720.1:c.8830C>T (AKAP9) | XP_011514022.1:p.Pro2944Ser | |
| XM_011515721.1:c.3595C>T (AKAP9) | XP_011514023.1:p.Pro1199Ser | |
| XM_011515722.1:c.3556C>T (AKAP9) | XP_011514024.1:p.Pro1186Ser | |
| XM_017011642.2:c.9070C>T (AKAP9) | XP_016867131.1:p.Pro3024Ser | |
| XM_017011643.2:c.9031C>T (AKAP9) | XP_016867132.1:p.Pro3011Ser | |
| XM_017011644.2:c.9070C>T (AKAP9) | XP_016867133.1:p.Pro3024Ser | |
| XM_017011645.2:c.9016C>T (AKAP9) | XP_016867134.1:p.Pro3006Ser | |
| XM_017011646.2:c.9031C>T (AKAP9) | XP_016867135.1:p.Pro3011Ser | |
| XM_017011647.2:c.8977C>T (AKAP9) | XP_016867136.1:p.Pro2993Ser | |
| XM_017011648.2:c.8974C>T (AKAP9) | XP_016867137.1:p.Pro2992Ser | |
| XM_017011649.2:c.9007C>T (AKAP9) | XP_016867138.1:p.Pro3003Ser | |
| XM_017011650.2:c.8935C>T (AKAP9) | XP_016867139.1:p.Pro2979Ser | |
| XM_017011651.2:c.8929C>T (AKAP9) | XP_016867140.1:p.Pro2977Ser | |
| XM_017011652.2:c.9070C>T (AKAP9) | XP_016867141.1:p.Pro3024Ser | |
| XM_017011653.2:c.8842C>T (AKAP9) | XP_016867142.1:p.Pro2948Ser | |
| XM_017011654.2:c.8794C>T (AKAP9) | XP_016867143.1:p.Pro2932Ser | |
| XM_017011655.2:c.8698C>T (AKAP9) | XP_016867144.1:p.Pro2900Ser | |
| XM_017011656.2:c.8698C>T (AKAP9) | XP_016867145.1:p.Pro2900Ser | |
| XM_017011657.2:c.4735C>T (AKAP9) | XP_016867146.1:p.Pro1579Ser | |
| XM_017011658.2:c.3619C>T (AKAP9) | XP_016867147.1:p.Pro1207Ser | |
| XM_017011659.2:c.3580C>T (AKAP9) | XP_016867148.1:p.Pro1194Ser | |
| XM_017011660.2:c.3580C>T (AKAP9) | XP_016867149.1:p.Pro1194Ser | |
| XM_024446631.1:c.8833C>T (AKAP9) | XP_024302399.1:p.Pro2945Ser | |
| NM_147185.3:c.8911C>T (AKAP9) | NP_671714.1:p.Pro2971Ser | |
| NM_001379277.1:c.3580C>T (AKAP9) | NP_001366206.1:p.Pro1194Ser | |
| NM_005751.5:c.8935C>T (AKAP9) MANE Select | NP_005742.4:p.Pro2979Ser |