ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000604 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00005884 (NFE)
Revel Score:
ENST00000356239 (MANE Select)
0.517
ENST00000359028
0.517
ENST00000358100
0.517
ENST00000413120
0.517
ENST00000394534
0.517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92102726G>T , CM000669.2:g.92102726G>T | GRCh38 |
| NC_000007.13:g.91732040G>T , CM000669.1:g.91732040G>T | GRCh37 |
| NC_000007.12:g.91569976G>T | NCBI36 |
| NG_011623.1:g.166852G>T , LRG_331:g.166852G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+14318C>A (CYP51A1) | ENSP00000510368.1:n.1351+14318C>A | |
| ENST00000356239.8:c.11230G>T (AKAP9) MANE Select | ENSP00000348573.3:p.Gly3744Trp | |
| ENST00000359028.7:c.11302G>T (AKAP9) | ENSP00000351922.4:p.Gly3768Trp | |
| ENST00000394534.7:c.4222G>T (AKAP9) | ENSP00000378042.3:p.Gly1408Trp | |
| ENST00000463118.2:n.485G>T (AKAP9) | ||
| ENST00000486313.2:c.718G>T (AKAP9) | ENSP00000505389.1:p.Gly240Trp | |
| ENST00000487692.2:n.3175+1670G>T (AKAP9) | ||
| ENST00000491695.2:c.5875G>T (AKAP9) | ENSP00000494626.2:p.Gly1959Trp | |
| ENST00000679448.1:c.*2110G>T (AKAP9) | ENSP00000505889.1:n.*2110G>T | |
| ENST00000679457.1:c.11206G>T (AKAP9) | ENSP00000505450.1:p.Gly3736Trp | |
| ENST00000679474.1:n.12414G>T (AKAP9) | ||
| ENST00000679521.1:c.11176G>T (AKAP9) | ENSP00000505456.1:p.Gly3726Trp | |
| ENST00000679821.1:c.10972G>T (AKAP9) | ENSP00000506040.1:p.Gly3658Trp | |
| ENST00000680047.1:n.12900G>T (AKAP9) | ||
| ENST00000680072.1:c.11053G>T (AKAP9) | ENSP00000506581.1:p.Gly3685Trp | |
| ENST00000680181.1:c.11137G>T (AKAP9) | ENSP00000505548.1:p.Gly3713Trp | |
| ENST00000680365.1:c.4869G>T (AKAP9) | ENSP00000506019.1:n.4869G>T | |
| ENST00000680513.1:c.11089G>T (AKAP9) | ENSP00000505284.1:p.Gly3697Trp | |
| ENST00000680534.1:c.11269G>T (AKAP9) | ENSP00000506674.1:p.Gly3757Trp | |
| ENST00000680766.1:c.11206G>T (AKAP9) | ENSP00000505204.1:p.Gly3736Trp | |
| ENST00000680952.1:c.11206G>T (AKAP9) | ENSP00000506407.1:p.Gly3736Trp | |
| ENST00000681216.1:c.4990G>T (AKAP9) | ENSP00000505551.1:n.4990G>T | |
| ENST00000681412.1:c.11230G>T (AKAP9) | ENSP00000506486.1:p.Gly3744Trp | |
| ENST00000681722.1:c.11206G>T (AKAP9) | ENSP00000506566.1:p.Gly3736Trp | |
| ENST00000356239.7:c.11230G>T (AKAP9) | ENSP00000348573.3:p.Gly3744Trp | |
| ENST00000359028.6:c.11239G>T (AKAP9) | ENSP00000351922.3:p.Gly3747Trp | |
| ENST00000394534.6:c.4768G>T (AKAP9) | ENSP00000378042.2:p.Gly1590Trp | |
| ENST00000463118.1:n.485G>T (AKAP9) | ||
| ENST00000486313.1:n.138G>T (AKAP9) | ||
| ENST00000487258.5:n.2980G>T (AKAP9) | ||
| NM_005751.4:c.11230G>T , LRG_331t1:c.11230G>T (AKAP9) | NP_005742.4:p.Gly3744Trp | |
| NM_147185.2:c.11206G>T (AKAP9) | NP_671714.1:p.Gly3736Trp | |
| XM_006715827.1:c.11089G>T (AKAP9) | XP_006715890.1:p.Gly3697Trp | |
| XM_011515709.1:c.11377G>T (AKAP9) | XP_011514011.1:p.Gly3793Trp | |
| XM_011515710.1:c.11401G>T (AKAP9) | XP_011514012.1:p.Gly3801Trp | |
| XM_011515711.1:c.11341G>T (AKAP9) | XP_011514013.1:p.Gly3781Trp | |
| XM_011515712.1:c.11338G>T (AKAP9) | XP_011514014.1:p.Gly3780Trp | |
| XM_011515713.1:c.11323G>T (AKAP9) | XP_011514015.1:p.Gly3775Trp | |
| XM_011515714.1:c.11362G>T (AKAP9) | XP_011514016.1:p.Gly3788Trp | |
| XM_011515716.1:c.11281G>T (AKAP9) | XP_011514018.1:p.Gly3761Trp | |
| XM_011515717.1:c.11236G>T (AKAP9) | XP_011514019.1:p.Gly3746Trp | |
| XM_011515718.1:c.11266G>T (AKAP9) | XP_011514020.1:p.Gly3756Trp | |
| XM_011515719.1:c.11242G>T (AKAP9) | XP_011514021.1:p.Gly3748Trp | |
| XM_011515721.1:c.5890G>T (AKAP9) | XP_011514023.1:p.Gly1964Trp | |
| XM_011515722.1:c.5851G>T (AKAP9) | XP_011514024.1:p.Gly1951Trp | |
| XM_017011642.2:c.11365G>T (AKAP9) | XP_016867131.1:p.Gly3789Trp | |
| XM_017011643.2:c.11326G>T (AKAP9) | XP_016867132.1:p.Gly3776Trp | |
| XM_017011644.2:c.11365G>T (AKAP9) | XP_016867133.1:p.Gly3789Trp | |
| XM_017011645.2:c.11311G>T (AKAP9) | XP_016867134.1:p.Gly3771Trp | |
| XM_017011646.2:c.11326G>T (AKAP9) | XP_016867135.1:p.Gly3776Trp | |
| XM_017011647.2:c.11272G>T (AKAP9) | XP_016867136.1:p.Gly3758Trp | |
| XM_017011648.2:c.11269G>T (AKAP9) | XP_016867137.1:p.Gly3757Trp | |
| XM_017011649.2:c.11302G>T (AKAP9) | XP_016867138.1:p.Gly3768Trp | |
| XM_017011650.2:c.11230G>T (AKAP9) | XP_016867139.1:p.Gly3744Trp | |
| XM_017011651.2:c.11224G>T (AKAP9) | XP_016867140.1:p.Gly3742Trp | |
| XM_017011652.2:c.11176G>T (AKAP9) | XP_016867141.1:p.Gly3726Trp | |
| XM_017011653.2:c.11137G>T (AKAP9) | XP_016867142.1:p.Gly3713Trp | |
| XM_017011654.2:c.11089G>T (AKAP9) | XP_016867143.1:p.Gly3697Trp | |
| XM_017011655.2:c.10993G>T (AKAP9) | XP_016867144.1:p.Gly3665Trp | |
| XM_017011656.2:c.10993G>T (AKAP9) | XP_016867145.1:p.Gly3665Trp | |
| XM_017011657.2:c.7030G>T (AKAP9) | XP_016867146.1:p.Gly2344Trp | |
| XM_017011658.2:c.5914G>T (AKAP9) | XP_016867147.1:p.Gly1972Trp | |
| XM_017011659.2:c.5875G>T (AKAP9) | XP_016867148.1:p.Gly1959Trp | |
| XM_017011660.2:c.5875G>T (AKAP9) | XP_016867149.1:p.Gly1959Trp | |
| XM_024446631.1:c.11128G>T (AKAP9) | XP_024302399.1:p.Gly3710Trp | |
| NM_147185.3:c.11206G>T (AKAP9) | NP_671714.1:p.Gly3736Trp | |
| NM_001379277.1:c.5875G>T (AKAP9) | NP_001366206.1:p.Gly1959Trp | |
| NM_005751.5:c.11230G>T (AKAP9) MANE Select | NP_005742.4:p.Gly3744Trp |