Linked Data
ClinVar Variation Id:
197505
dbSNP Id:
rs56198613
ExAC:
7:91729054 G / A
gnomAD v2:
7-91729054-G-A
gnomAD v3:
7-92099740-G-A
gnomAD v4:
7-92099740-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92099740G>A , CM000669.2:g.92099740G>A | GRCh38 |
| NC_000007.13:g.91729054G>A , CM000669.1:g.91729054G>A | GRCh37 |
| NC_000007.12:g.91566990G>A | NCBI36 |
| NG_011623.1:g.163866G>A , LRG_331:g.163866G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-14138C>T (CYP51A1) | ENSP00000510368.1:n.1352-14138C>T | |
| ENST00000356239.8:c.10767G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Leu3589= | |
| ENST00000359028.7:c.10839G>A (AKAP9) | ENSP00000351922.4:p.Leu3613= | |
| ENST00000394534.7:c.3759G>A (AKAP9) | ENSP00000378042.3:p.Leu1253= | |
| ENST00000463118.2:n.115G>A (AKAP9) | ||
| ENST00000486313.2:c.255G>A (AKAP9) | ENSP00000505389.1:p.Leu85= | |
| ENST00000487692.2:n.2845G>A (AKAP9) | ||
| ENST00000491695.2:c.5412G>A (AKAP9) | ENSP00000494626.2:p.Leu1804= | |
| ENST00000679448.1:c.*1647G>A (AKAP9) | ENSP00000505889.1:n.*1647G>A | |
| ENST00000679457.1:c.10743G>A (AKAP9) | ENSP00000505450.1:p.Leu3581= | |
| ENST00000679474.1:n.10965G>A (AKAP9) | ||
| ENST00000679521.1:c.10713G>A (AKAP9) | ENSP00000505456.1:p.Leu3571= | |
| ENST00000679821.1:c.10509G>A (AKAP9) | ENSP00000506040.1:p.Leu3503= | |
| ENST00000680047.1:n.12437G>A (AKAP9) | ||
| ENST00000680072.1:c.10590G>A (AKAP9) | ENSP00000506581.1:p.Leu3530= | |
| ENST00000680181.1:c.10674G>A (AKAP9) | ENSP00000505548.1:p.Leu3558= | |
| ENST00000680365.1:c.4406G>A (AKAP9) | ENSP00000506019.1:n.4406G>A | |
| ENST00000680513.1:c.10626G>A (AKAP9) | ENSP00000505284.1:p.Leu3542= | |
| ENST00000680534.1:c.10806G>A (AKAP9) | ENSP00000506674.1:p.Leu3602= | |
| ENST00000680766.1:c.10743G>A (AKAP9) | ENSP00000505204.1:p.Leu3581= | |
| ENST00000680952.1:c.10743G>A (AKAP9) | ENSP00000506407.1:p.Leu3581= | |
| ENST00000681216.1:c.4527G>A (AKAP9) | ENSP00000505551.1:n.4527G>A | |
| ENST00000681412.1:c.10767G>A (AKAP9) | ENSP00000506486.1:p.Leu3589= | |
| ENST00000681722.1:c.10743G>A (AKAP9) | ENSP00000506566.1:p.Leu3581= | |
| ENST00000356239.7:c.10767G>A (AKAP9) | ENSP00000348573.3:p.Leu3589= | |
| ENST00000359028.6:c.10776G>A (AKAP9) | ENSP00000351922.3:p.Leu3592= | |
| ENST00000394534.6:c.4305G>A (AKAP9) | ENSP00000378042.2:p.Leu1435= | |
| ENST00000463118.1:n.115G>A (AKAP9) | ||
| ENST00000487258.5:n.2517G>A (AKAP9) | ||
| ENST00000487692.1:n.567G>A (AKAP9) | ||
| NM_005751.4:c.10767G>A , LRG_331t1:c.10767G>A (AKAP9) | NP_005742.4:p.Leu3589= | |
| NM_147185.2:c.10743G>A (AKAP9) | NP_671714.1:p.Leu3581= | |
| XM_006715827.1:c.10626G>A (AKAP9) | XP_006715890.1:p.Leu3542= | |
| XM_011515709.1:c.10914G>A (AKAP9) | XP_011514011.1:p.Leu3638= | |
| XM_011515710.1:c.10938G>A (AKAP9) | XP_011514012.1:p.Leu3646= | |
| XM_011515711.1:c.10878G>A (AKAP9) | XP_011514013.1:p.Leu3626= | |
| XM_011515712.1:c.10875G>A (AKAP9) | XP_011514014.1:p.Leu3625= | |
| XM_011515713.1:c.10860G>A (AKAP9) | XP_011514015.1:p.Leu3620= | |
| XM_011515714.1:c.10899G>A (AKAP9) | XP_011514016.1:p.Leu3633= | |
| XM_011515716.1:c.10818G>A (AKAP9) | XP_011514018.1:p.Leu3606= | |
| XM_011515717.1:c.10773G>A (AKAP9) | XP_011514019.1:p.Leu3591= | |
| XM_011515718.1:c.10803G>A (AKAP9) | XP_011514020.1:p.Leu3601= | |
| XM_011515719.1:c.10779G>A (AKAP9) | XP_011514021.1:p.Leu3593= | |
| XM_011515721.1:c.5427G>A (AKAP9) | XP_011514023.1:p.Leu1809= | |
| XM_011515722.1:c.5388G>A (AKAP9) | XP_011514024.1:p.Leu1796= | |
| XM_017011642.2:c.10902G>A (AKAP9) | XP_016867131.1:p.Leu3634= | |
| XM_017011643.2:c.10863G>A (AKAP9) | XP_016867132.1:p.Leu3621= | |
| XM_017011644.2:c.10902G>A (AKAP9) | XP_016867133.1:p.Leu3634= | |
| XM_017011645.2:c.10848G>A (AKAP9) | XP_016867134.1:p.Leu3616= | |
| XM_017011646.2:c.10863G>A (AKAP9) | XP_016867135.1:p.Leu3621= | |
| XM_017011647.2:c.10809G>A (AKAP9) | XP_016867136.1:p.Leu3603= | |
| XM_017011648.2:c.10806G>A (AKAP9) | XP_016867137.1:p.Leu3602= | |
| XM_017011649.2:c.10839G>A (AKAP9) | XP_016867138.1:p.Leu3613= | |
| XM_017011650.2:c.10767G>A (AKAP9) | XP_016867139.1:p.Leu3589= | |
| XM_017011651.2:c.10761G>A (AKAP9) | XP_016867140.1:p.Leu3587= | |
| XM_017011652.2:c.10713G>A (AKAP9) | XP_016867141.1:p.Leu3571= | |
| XM_017011653.2:c.10674G>A (AKAP9) | XP_016867142.1:p.Leu3558= | |
| XM_017011654.2:c.10626G>A (AKAP9) | XP_016867143.1:p.Leu3542= | |
| XM_017011655.2:c.10530G>A (AKAP9) | XP_016867144.1:p.Leu3510= | |
| XM_017011656.2:c.10530G>A (AKAP9) | XP_016867145.1:p.Leu3510= | |
| XM_017011657.2:c.6567G>A (AKAP9) | XP_016867146.1:p.Leu2189= | |
| XM_017011658.2:c.5451G>A (AKAP9) | XP_016867147.1:p.Leu1817= | |
| XM_017011659.2:c.5412G>A (AKAP9) | XP_016867148.1:p.Leu1804= | |
| XM_017011660.2:c.5412G>A (AKAP9) | XP_016867149.1:p.Leu1804= | |
| XM_024446631.1:c.10665G>A (AKAP9) | XP_024302399.1:p.Leu3555= | |
| NM_147185.3:c.10743G>A (AKAP9) | NP_671714.1:p.Leu3581= | |
| NM_001379277.1:c.5412G>A (AKAP9) | NP_001366206.1:p.Leu1804= | |
| NM_005751.5:c.10767G>A (AKAP9) MANE Select | NP_005742.4:p.Leu3589= |