Linked Data
ClinVar Variation Id:
519243
dbSNP Id:
rs781296769
ExAC:
7:91736685 G / A
gnomAD v2:
7-91736685-G-A
gnomAD v3:
7-92107371-G-A
gnomAD v4:
7-92107371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92107371G>A , CM000669.2:g.92107371G>A | GRCh38 |
| NC_000007.13:g.91736685G>A , CM000669.1:g.91736685G>A | GRCh37 |
| NC_000007.12:g.91574621G>A | NCBI36 |
| NG_011623.1:g.171497G>A , LRG_331:g.171497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+9673C>T (CYP51A1) | ENSP00000510368.1:n.1351+9673C>T | |
| ENST00000356239.8:c.11495G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Arg3832His | |
| ENST00000359028.7:c.11567G>A (AKAP9) | ENSP00000351922.4:p.Arg3856His | |
| ENST00000394534.7:c.4487G>A (AKAP9) | ENSP00000378042.3:p.Arg1496His | |
| ENST00000463118.2:n.750G>A (AKAP9) | ||
| ENST00000486313.2:c.819-2751G>A (AKAP9) | ENSP00000505389.1:n.819-2751G>A | |
| ENST00000487692.2:n.3254G>A (AKAP9) | ||
| ENST00000491695.2:c.6140G>A (AKAP9) | ENSP00000494626.2:p.Arg2047His | |
| ENST00000679448.1:c.*2375G>A (AKAP9) | ENSP00000505889.1:n.*2375G>A | |
| ENST00000679457.1:c.*63G>A (AKAP9) | ENSP00000505450.1:n.*63G>A | |
| ENST00000679474.1:n.12679G>A (AKAP9) | ||
| ENST00000679521.1:c.11441G>A (AKAP9) | ENSP00000505456.1:p.Arg3814His | |
| ENST00000679821.1:c.11237G>A (AKAP9) | ENSP00000506040.1:p.Arg3746His | |
| ENST00000680047.1:n.13165G>A (AKAP9) | ||
| ENST00000680072.1:c.11318G>A (AKAP9) | ENSP00000506581.1:p.Arg3773His | |
| ENST00000680181.1:c.11402G>A (AKAP9) | ENSP00000505548.1:p.Arg3801His | |
| ENST00000680365.1:c.5134G>A (AKAP9) | ENSP00000506019.1:n.5134G>A | |
| ENST00000680513.1:c.11354G>A (AKAP9) | ENSP00000505284.1:p.Arg3785His | |
| ENST00000680534.1:c.11534G>A (AKAP9) | ENSP00000506674.1:p.Arg3845His | |
| ENST00000680766.1:c.11471G>A (AKAP9) | ENSP00000505204.1:p.Arg3824His | |
| ENST00000680952.1:c.11307-1123G>A (AKAP9) | ENSP00000506407.1:n.11307-1123G>A | |
| ENST00000681216.1:c.5255G>A (AKAP9) | ENSP00000505551.1:n.5255G>A | |
| ENST00000681412.1:c.11495G>A (AKAP9) | ENSP00000506486.1:p.Arg3832His | |
| ENST00000681722.1:c.11471G>A (AKAP9) | ENSP00000506566.1:p.Arg3824His | |
| ENST00000356239.7:c.11495G>A (AKAP9) | ENSP00000348573.3:p.Arg3832His | |
| ENST00000359028.6:c.11504G>A (AKAP9) | ENSP00000351922.3:p.Arg3835His | |
| ENST00000394534.6:c.5033G>A (AKAP9) | ENSP00000378042.2:p.Arg1678His | |
| ENST00000463118.1:n.750G>A (AKAP9) | ||
| ENST00000486313.1:n.239-2751G>A (AKAP9) | ||
| ENST00000487258.5:n.3245G>A (AKAP9) | ||
| ENST00000493976.1:n.166G>A (AKAP9) | ||
| NM_005751.4:c.11495G>A , LRG_331t1:c.11495G>A (AKAP9) | NP_005742.4:p.Arg3832His | |
| NM_147185.2:c.11471G>A (AKAP9) | NP_671714.1:p.Arg3824His | |
| XM_006715827.1:c.11354G>A (AKAP9) | XP_006715890.1:p.Arg3785His | |
| XM_011515709.1:c.11642G>A (AKAP9) | XP_011514011.1:p.Arg3881His | |
| XM_011515710.1:c.11666G>A (AKAP9) | XP_011514012.1:p.Arg3889His | |
| XM_011515711.1:c.11606G>A (AKAP9) | XP_011514013.1:p.Arg3869His | |
| XM_011515712.1:c.11603G>A (AKAP9) | XP_011514014.1:p.Arg3868His | |
| XM_011515713.1:c.11588G>A (AKAP9) | XP_011514015.1:p.Arg3863His | |
| XM_011515714.1:c.11627G>A (AKAP9) | XP_011514016.1:p.Arg3876His | |
| XM_011515716.1:c.11546G>A (AKAP9) | XP_011514018.1:p.Arg3849His | |
| XM_011515717.1:c.11501G>A (AKAP9) | XP_011514019.1:p.Arg3834His | |
| XM_011515718.1:c.11531G>A (AKAP9) | XP_011514020.1:p.Arg3844His | |
| XM_011515719.1:c.11507G>A (AKAP9) | XP_011514021.1:p.Arg3836His | |
| XM_011515721.1:c.6155G>A (AKAP9) | XP_011514023.1:p.Arg2052His | |
| XM_011515722.1:c.6116G>A (AKAP9) | XP_011514024.1:p.Arg2039His | |
| XM_017011642.2:c.11630G>A (AKAP9) | XP_016867131.1:p.Arg3877His | |
| XM_017011643.2:c.11591G>A (AKAP9) | XP_016867132.1:p.Arg3864His | |
| XM_017011644.2:c.11630G>A (AKAP9) | XP_016867133.1:p.Arg3877His | |
| XM_017011645.2:c.11576G>A (AKAP9) | XP_016867134.1:p.Arg3859His | |
| XM_017011646.2:c.11591G>A (AKAP9) | XP_016867135.1:p.Arg3864His | |
| XM_017011647.2:c.11537G>A (AKAP9) | XP_016867136.1:p.Arg3846His | |
| XM_017011648.2:c.11534G>A (AKAP9) | XP_016867137.1:p.Arg3845His | |
| XM_017011649.2:c.11567G>A (AKAP9) | XP_016867138.1:p.Arg3856His | |
| XM_017011650.2:c.11495G>A (AKAP9) | XP_016867139.1:p.Arg3832His | |
| XM_017011651.2:c.11489G>A (AKAP9) | XP_016867140.1:p.Arg3830His | |
| XM_017011652.2:c.11441G>A (AKAP9) | XP_016867141.1:p.Arg3814His | |
| XM_017011653.2:c.11402G>A (AKAP9) | XP_016867142.1:p.Arg3801His | |
| XM_017011654.2:c.11354G>A (AKAP9) | XP_016867143.1:p.Arg3785His | |
| XM_017011655.2:c.11258G>A (AKAP9) | XP_016867144.1:p.Arg3753His | |
| XM_017011656.2:c.11258G>A (AKAP9) | XP_016867145.1:p.Arg3753His | |
| XM_017011657.2:c.7295G>A (AKAP9) | XP_016867146.1:p.Arg2432His | |
| XM_017011658.2:c.6179G>A (AKAP9) | XP_016867147.1:p.Arg2060His | |
| XM_017011659.2:c.6140G>A (AKAP9) | XP_016867148.1:p.Arg2047His | |
| XM_017011660.2:c.6140G>A (AKAP9) | XP_016867149.1:p.Arg2047His | |
| XM_024446631.1:c.11393G>A (AKAP9) | XP_024302399.1:p.Arg3798His | |
| NM_147185.3:c.11471G>A (AKAP9) | NP_671714.1:p.Arg3824His | |
| NM_001379277.1:c.6140G>A (AKAP9) | NP_001366206.1:p.Arg2047His | |
| NM_005751.5:c.11495G>A (AKAP9) MANE Select | NP_005742.4:p.Arg3832His |