Linked Data
ClinVar Variation Id:
360847
dbSNP Id:
rs200711005
ExAC:
7:91726494 G / A
gnomAD v2:
7-91726494-G-A
gnomAD v3:
7-92097180-G-A
gnomAD v4:
7-92097180-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92097180G>A , CM000669.2:g.92097180G>A | GRCh38 |
| NC_000007.13:g.91726494G>A , CM000669.1:g.91726494G>A | GRCh37 |
| NC_000007.12:g.91564430G>A | NCBI36 |
| NG_011623.1:g.161306G>A , LRG_331:g.161306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-11578C>T (CYP51A1) | ENSP00000510368.1:n.1352-11578C>T | |
| ENST00000356239.8:c.10221G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Glu3407= | |
| ENST00000359028.7:c.10293G>A (AKAP9) | ENSP00000351922.4:p.Glu3431= | |
| ENST00000394534.7:c.3390+324G>A (AKAP9) | ENSP00000378042.3:n.3390+324G>A | |
| ENST00000487692.2:n.2299G>A (AKAP9) | ||
| ENST00000491695.2:c.4866G>A (AKAP9) | ENSP00000494626.2:p.Glu1622= | |
| ENST00000679448.1:c.*1101G>A (AKAP9) | ENSP00000505889.1:n.*1101G>A | |
| ENST00000679457.1:c.10197G>A (AKAP9) | ENSP00000505450.1:p.Glu3399= | |
| ENST00000679474.1:n.10419G>A (AKAP9) | ||
| ENST00000679521.1:c.10167G>A (AKAP9) | ENSP00000505456.1:p.Glu3389= | |
| ENST00000679821.1:c.9963G>A (AKAP9) | ENSP00000506040.1:p.Glu3321= | |
| ENST00000680047.1:n.10419G>A (AKAP9) | ||
| ENST00000680072.1:c.10044G>A (AKAP9) | ENSP00000506581.1:p.Glu3348= | |
| ENST00000680181.1:c.10128G>A (AKAP9) | ENSP00000505548.1:p.Glu3376= | |
| ENST00000680365.1:c.3860G>A (AKAP9) | ENSP00000506019.1:n.3860G>A | |
| ENST00000680513.1:c.10080G>A (AKAP9) | ENSP00000505284.1:p.Glu3360= | |
| ENST00000680534.1:c.10260G>A (AKAP9) | ENSP00000506674.1:p.Glu3420= | |
| ENST00000680766.1:c.10197G>A (AKAP9) | ENSP00000505204.1:p.Glu3399= | |
| ENST00000680952.1:c.10197G>A (AKAP9) | ENSP00000506407.1:p.Glu3399= | |
| ENST00000681216.1:c.3981G>A (AKAP9) | ENSP00000505551.1:n.3981G>A | |
| ENST00000681412.1:c.10221G>A (AKAP9) | ENSP00000506486.1:p.Glu3407= | |
| ENST00000681722.1:c.10197G>A (AKAP9) | ENSP00000506566.1:p.Glu3399= | |
| ENST00000356239.7:c.10221G>A (AKAP9) | ENSP00000348573.3:p.Glu3407= | |
| ENST00000359028.6:c.10230G>A (AKAP9) | ENSP00000351922.3:p.Glu3410= | |
| ENST00000394534.6:c.3759G>A (AKAP9) | ENSP00000378042.2:p.Glu1253= | |
| ENST00000487258.5:n.1971G>A (AKAP9) | ||
| ENST00000487692.1:n.21G>A (AKAP9) | ||
| NM_005751.4:c.10221G>A , LRG_331t1:c.10221G>A (AKAP9) | NP_005742.4:p.Glu3407= | |
| NM_147185.2:c.10197G>A (AKAP9) | NP_671714.1:p.Glu3399= | |
| XM_006715827.1:c.10080G>A (AKAP9) | XP_006715890.1:p.Glu3360= | |
| XM_011515709.1:c.10368G>A (AKAP9) | XP_011514011.1:p.Glu3456= | |
| XM_011515710.1:c.10392G>A (AKAP9) | XP_011514012.1:p.Glu3464= | |
| XM_011515711.1:c.10332G>A (AKAP9) | XP_011514013.1:p.Glu3444= | |
| XM_011515712.1:c.10329G>A (AKAP9) | XP_011514014.1:p.Glu3443= | |
| XM_011515713.1:c.10314G>A (AKAP9) | XP_011514015.1:p.Glu3438= | |
| XM_011515714.1:c.10353G>A (AKAP9) | XP_011514016.1:p.Glu3451= | |
| XM_011515716.1:c.10272G>A (AKAP9) | XP_011514018.1:p.Glu3424= | |
| XM_011515717.1:c.10227G>A (AKAP9) | XP_011514019.1:p.Glu3409= | |
| XM_011515718.1:c.10257G>A (AKAP9) | XP_011514020.1:p.Glu3419= | |
| XM_011515719.1:c.10233G>A (AKAP9) | XP_011514021.1:p.Glu3411= | |
| XM_011515721.1:c.4881G>A (AKAP9) | XP_011514023.1:p.Glu1627= | |
| XM_011515722.1:c.4842G>A (AKAP9) | XP_011514024.1:p.Glu1614= | |
| XM_017011642.2:c.10356G>A (AKAP9) | XP_016867131.1:p.Glu3452= | |
| XM_017011643.2:c.10317G>A (AKAP9) | XP_016867132.1:p.Glu3439= | |
| XM_017011644.2:c.10356G>A (AKAP9) | XP_016867133.1:p.Glu3452= | |
| XM_017011645.2:c.10302G>A (AKAP9) | XP_016867134.1:p.Glu3434= | |
| XM_017011646.2:c.10317G>A (AKAP9) | XP_016867135.1:p.Glu3439= | |
| XM_017011647.2:c.10263G>A (AKAP9) | XP_016867136.1:p.Glu3421= | |
| XM_017011648.2:c.10260G>A (AKAP9) | XP_016867137.1:p.Glu3420= | |
| XM_017011649.2:c.10293G>A (AKAP9) | XP_016867138.1:p.Glu3431= | |
| XM_017011650.2:c.10221G>A (AKAP9) | XP_016867139.1:p.Glu3407= | |
| XM_017011651.2:c.10215G>A (AKAP9) | XP_016867140.1:p.Glu3405= | |
| XM_017011652.2:c.10167G>A (AKAP9) | XP_016867141.1:p.Glu3389= | |
| XM_017011653.2:c.10128G>A (AKAP9) | XP_016867142.1:p.Glu3376= | |
| XM_017011654.2:c.10080G>A (AKAP9) | XP_016867143.1:p.Glu3360= | |
| XM_017011655.2:c.9984G>A (AKAP9) | XP_016867144.1:p.Glu3328= | |
| XM_017011656.2:c.9984G>A (AKAP9) | XP_016867145.1:p.Glu3328= | |
| XM_017011657.2:c.6021G>A (AKAP9) | XP_016867146.1:p.Glu2007= | |
| XM_017011658.2:c.4905G>A (AKAP9) | XP_016867147.1:p.Glu1635= | |
| XM_017011659.2:c.4866G>A (AKAP9) | XP_016867148.1:p.Glu1622= | |
| XM_017011660.2:c.4866G>A (AKAP9) | XP_016867149.1:p.Glu1622= | |
| XM_024446631.1:c.10119G>A (AKAP9) | XP_024302399.1:p.Glu3373= | |
| NM_147185.3:c.10197G>A (AKAP9) | NP_671714.1:p.Glu3399= | |
| NM_001379277.1:c.4866G>A (AKAP9) | NP_001366206.1:p.Glu1622= | |
| NM_005751.5:c.10221G>A (AKAP9) MANE Select | NP_005742.4:p.Glu3407= |