Linked Data
ClinVar Variation Id:
518722
dbSNP Id:
rs201298286
ExAC:
7:91739456 G / A
gnomAD v2:
7-91739456-G-A
gnomAD v3:
7-92110142-G-A
gnomAD v4:
7-92110142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92110142G>A , CM000669.2:g.92110142G>A | GRCh38 |
| NC_000007.13:g.91739456G>A , CM000669.1:g.91739456G>A | GRCh37 |
| NC_000007.12:g.91577392G>A | NCBI36 |
| NG_011623.1:g.174268G>A , LRG_331:g.174268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+6902C>T (CYP51A1) | ENSP00000510368.1:n.1351+6902C>T | |
| ENST00000356239.8:c.11707G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Ala3903Thr | |
| ENST00000359028.7:c.11779G>A (AKAP9) | ENSP00000351922.4:p.Ala3927Thr | |
| ENST00000394534.7:c.4699G>A (AKAP9) | ENSP00000378042.3:p.Ala1567Thr | |
| ENST00000486313.2:c.839G>A (AKAP9) | ENSP00000505389.1:p.Cys280Tyr | |
| ENST00000487692.2:n.3466G>A (AKAP9) | ||
| ENST00000491695.2:c.6352G>A (AKAP9) | ENSP00000494626.2:p.Ala2118Thr | |
| ENST00000679448.1:c.*2587G>A (AKAP9) | ENSP00000505889.1:n.*2587G>A | |
| ENST00000679457.1:c.*1763G>A (AKAP9) | ENSP00000505450.1:n.*1763G>A | |
| ENST00000679474.1:n.12891G>A (AKAP9) | ||
| ENST00000679521.1:c.11653G>A (AKAP9) | ENSP00000505456.1:p.Ala3885Thr | |
| ENST00000679821.1:c.11449G>A (AKAP9) | ENSP00000506040.1:p.Ala3817Thr | |
| ENST00000680047.1:n.13377G>A (AKAP9) | ||
| ENST00000680072.1:c.11530G>A (AKAP9) | ENSP00000506581.1:p.Ala3844Thr | |
| ENST00000680181.1:c.11614G>A (AKAP9) | ENSP00000505548.1:p.Ala3872Thr | |
| ENST00000680365.1:c.5346G>A (AKAP9) | ENSP00000506019.1:n.5346G>A | |
| ENST00000680513.1:c.11566G>A (AKAP9) | ENSP00000505284.1:p.Ala3856Thr | |
| ENST00000680534.1:c.11746G>A (AKAP9) | ENSP00000506674.1:p.Ala3916Thr | |
| ENST00000680766.1:c.11683G>A (AKAP9) | ENSP00000505204.1:p.Ala3895Thr | |
| ENST00000680952.1:c.11467G>A (AKAP9) | ENSP00000506407.1:p.Ala3823Thr | |
| ENST00000681216.1:c.5467G>A (AKAP9) | ENSP00000505551.1:n.5467G>A | |
| ENST00000681412.1:c.*1423G>A (AKAP9) | ENSP00000506486.1:n.*1423G>A | |
| ENST00000356239.7:c.11707G>A (AKAP9) | ENSP00000348573.3:p.Ala3903Thr | |
| ENST00000359028.6:c.11716G>A (AKAP9) | ENSP00000351922.3:p.Ala3906Thr | |
| ENST00000486313.1:n.259G>A (AKAP9) | ||
| ENST00000487258.5:n.3457G>A (AKAP9) | ||
| NM_005751.4:c.11707G>A , LRG_331t1:c.11707G>A (AKAP9) | NP_005742.4:p.Ala3903Thr | |
| NM_147185.2:c.11683G>A (AKAP9) | NP_671714.1:p.Ala3895Thr | |
| XM_006715827.1:c.11566G>A (AKAP9) | XP_006715890.1:p.Ala3856Thr | |
| XM_011515710.1:c.11878G>A (AKAP9) | XP_011514012.1:p.Ala3960Thr | |
| XM_011515714.1:c.11839G>A (AKAP9) | XP_011514016.1:p.Ala3947Thr | |
| XM_011515718.1:c.11743G>A (AKAP9) | XP_011514020.1:p.Ala3915Thr | |
| XM_011515719.1:c.11719G>A (AKAP9) | XP_011514021.1:p.Ala3907Thr | |
| XM_017011642.2:c.*1423G>A (AKAP9) | XP_016867131.1:n.*1423G>A | |
| XM_017011643.2:c.*1423G>A (AKAP9) | XP_016867132.1:n.*1423G>A | |
| XM_017011644.2:c.11842G>A (AKAP9) | XP_016867133.1:p.Ala3948Thr | |
| XM_017011645.2:c.*1423G>A (AKAP9) | XP_016867134.1:n.*1423G>A | |
| XM_017011646.2:c.11803G>A (AKAP9) | XP_016867135.1:p.Ala3935Thr | |
| XM_017011647.2:c.*1423G>A (AKAP9) | XP_016867136.1:n.*1423G>A | |
| XM_017011648.2:c.*1423G>A (AKAP9) | XP_016867137.1:n.*1423G>A | |
| XM_017011649.2:c.11779G>A (AKAP9) | XP_016867138.1:p.Ala3927Thr | |
| XM_017011650.2:c.*1423G>A (AKAP9) | XP_016867139.1:n.*1423G>A | |
| XM_017011651.2:c.*1423G>A (AKAP9) | XP_016867140.1:n.*1423G>A | |
| XM_017011652.2:c.*1423G>A (AKAP9) | XP_016867141.1:n.*1423G>A | |
| XM_017011653.2:c.*1423G>A (AKAP9) | XP_016867142.1:n.*1423G>A | |
| XM_017011654.2:c.*1423G>A (AKAP9) | XP_016867143.1:n.*1423G>A | |
| XM_017011655.2:c.*1423G>A (AKAP9) | XP_016867144.1:n.*1423G>A | |
| XM_017011656.2:c.*1423G>A (AKAP9) | XP_016867145.1:n.*1423G>A | |
| XM_017011657.2:c.*1423G>A (AKAP9) | XP_016867146.1:n.*1423G>A | |
| XM_017011658.2:c.*1423G>A (AKAP9) | XP_016867147.1:n.*1423G>A | |
| XM_017011659.2:c.*1423G>A (AKAP9) | XP_016867148.1:n.*1423G>A | |
| XM_017011660.2:c.6352G>A (AKAP9) | XP_016867149.1:p.Ala2118Thr | |
| XM_024446631.1:c.*1423G>A (AKAP9) | XP_024302399.1:n.*1423G>A | |
| NM_147185.3:c.11683G>A (AKAP9) | NP_671714.1:p.Ala3895Thr | |
| NM_001379277.1:c.6352G>A (AKAP9) | NP_001366206.1:p.Ala2118Thr | |
| NM_005751.5:c.11707G>A (AKAP9) MANE Select | NP_005742.4:p.Ala3903Thr |