Linked Data
ClinVar Variation Id:
412024
dbSNP Id:
rs752685614
ExAC:
7:91726154 G / A
gnomAD v2:
7-91726154-G-A
gnomAD v3:
7-92096840-G-A
gnomAD v4:
7-92096840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92096840G>A , CM000669.2:g.92096840G>A | GRCh38 |
| NC_000007.13:g.91726154G>A , CM000669.1:g.91726154G>A | GRCh37 |
| NC_000007.12:g.91564090G>A | NCBI36 |
| NG_011623.1:g.160966G>A , LRG_331:g.160966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-11238C>T (CYP51A1) | ENSP00000510368.1:n.1352-11238C>T | |
| ENST00000356239.8:c.9881G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Arg3294Gln | |
| ENST00000359028.7:c.9953G>A (AKAP9) | ENSP00000351922.4:p.Arg3318Gln | |
| ENST00000394534.7:c.3374G>A (AKAP9) | ENSP00000378042.3:p.Arg1125Gln | |
| ENST00000487692.2:n.1959G>A (AKAP9) | ||
| ENST00000491695.2:c.4526G>A (AKAP9) | ENSP00000494626.2:p.Arg1509Gln | |
| ENST00000679448.1:c.*761G>A (AKAP9) | ENSP00000505889.1:n.*761G>A | |
| ENST00000679457.1:c.9857G>A (AKAP9) | ENSP00000505450.1:p.Arg3286Gln | |
| ENST00000679474.1:n.10079G>A (AKAP9) | ||
| ENST00000679521.1:c.9827G>A (AKAP9) | ENSP00000505456.1:p.Arg3276Gln | |
| ENST00000679821.1:c.9623G>A (AKAP9) | ENSP00000506040.1:p.Arg3208Gln | |
| ENST00000680047.1:n.10079G>A (AKAP9) | ||
| ENST00000680072.1:c.9704G>A (AKAP9) | ENSP00000506581.1:p.Arg3235Gln | |
| ENST00000680181.1:c.9788G>A (AKAP9) | ENSP00000505548.1:p.Arg3263Gln | |
| ENST00000680365.1:c.3520G>A (AKAP9) | ENSP00000506019.1:n.3520G>A | |
| ENST00000680513.1:c.9740G>A (AKAP9) | ENSP00000505284.1:p.Arg3247Gln | |
| ENST00000680534.1:c.9920G>A (AKAP9) | ENSP00000506674.1:p.Arg3307Gln | |
| ENST00000680766.1:c.9857G>A (AKAP9) | ENSP00000505204.1:p.Arg3286Gln | |
| ENST00000680952.1:c.9857G>A (AKAP9) | ENSP00000506407.1:p.Arg3286Gln | |
| ENST00000681216.1:c.3641G>A (AKAP9) | ENSP00000505551.1:n.3641G>A | |
| ENST00000681412.1:c.9881G>A (AKAP9) | ENSP00000506486.1:p.Arg3294Gln | |
| ENST00000681722.1:c.9857G>A (AKAP9) | ENSP00000506566.1:p.Arg3286Gln | |
| ENST00000356239.7:c.9881G>A (AKAP9) | ENSP00000348573.3:p.Arg3294Gln | |
| ENST00000359028.6:c.9890G>A (AKAP9) | ENSP00000351922.3:p.Arg3297Gln | |
| ENST00000394534.6:c.3419G>A (AKAP9) | ENSP00000378042.2:p.Arg1140Gln | |
| ENST00000487258.5:n.1631G>A (AKAP9) | ||
| NM_005751.4:c.9881G>A , LRG_331t1:c.9881G>A (AKAP9) | NP_005742.4:p.Arg3294Gln | |
| NM_147185.2:c.9857G>A (AKAP9) | NP_671714.1:p.Arg3286Gln | |
| XM_006715827.1:c.9740G>A (AKAP9) | XP_006715890.1:p.Arg3247Gln | |
| XM_011515709.1:c.10028G>A (AKAP9) | XP_011514011.1:p.Arg3343Gln | |
| XM_011515710.1:c.10052G>A (AKAP9) | XP_011514012.1:p.Arg3351Gln | |
| XM_011515711.1:c.9992G>A (AKAP9) | XP_011514013.1:p.Arg3331Gln | |
| XM_011515712.1:c.9989G>A (AKAP9) | XP_011514014.1:p.Arg3330Gln | |
| XM_011515713.1:c.9974G>A (AKAP9) | XP_011514015.1:p.Arg3325Gln | |
| XM_011515714.1:c.10013G>A (AKAP9) | XP_011514016.1:p.Arg3338Gln | |
| XM_011515716.1:c.9932G>A (AKAP9) | XP_011514018.1:p.Arg3311Gln | |
| XM_011515717.1:c.9887G>A (AKAP9) | XP_011514019.1:p.Arg3296Gln | |
| XM_011515718.1:c.9917G>A (AKAP9) | XP_011514020.1:p.Arg3306Gln | |
| XM_011515719.1:c.9893G>A (AKAP9) | XP_011514021.1:p.Arg3298Gln | |
| XM_011515721.1:c.4541G>A (AKAP9) | XP_011514023.1:p.Arg1514Gln | |
| XM_011515722.1:c.4502G>A (AKAP9) | XP_011514024.1:p.Arg1501Gln | |
| XM_017011642.2:c.10016G>A (AKAP9) | XP_016867131.1:p.Arg3339Gln | |
| XM_017011643.2:c.9977G>A (AKAP9) | XP_016867132.1:p.Arg3326Gln | |
| XM_017011644.2:c.10016G>A (AKAP9) | XP_016867133.1:p.Arg3339Gln | |
| XM_017011645.2:c.9962G>A (AKAP9) | XP_016867134.1:p.Arg3321Gln | |
| XM_017011646.2:c.9977G>A (AKAP9) | XP_016867135.1:p.Arg3326Gln | |
| XM_017011647.2:c.9923G>A (AKAP9) | XP_016867136.1:p.Arg3308Gln | |
| XM_017011648.2:c.9920G>A (AKAP9) | XP_016867137.1:p.Arg3307Gln | |
| XM_017011649.2:c.9953G>A (AKAP9) | XP_016867138.1:p.Arg3318Gln | |
| XM_017011650.2:c.9881G>A (AKAP9) | XP_016867139.1:p.Arg3294Gln | |
| XM_017011651.2:c.9875G>A (AKAP9) | XP_016867140.1:p.Arg3292Gln | |
| XM_017011652.2:c.9827G>A (AKAP9) | XP_016867141.1:p.Arg3276Gln | |
| XM_017011653.2:c.9788G>A (AKAP9) | XP_016867142.1:p.Arg3263Gln | |
| XM_017011654.2:c.9740G>A (AKAP9) | XP_016867143.1:p.Arg3247Gln | |
| XM_017011655.2:c.9644G>A (AKAP9) | XP_016867144.1:p.Arg3215Gln | |
| XM_017011656.2:c.9644G>A (AKAP9) | XP_016867145.1:p.Arg3215Gln | |
| XM_017011657.2:c.5681G>A (AKAP9) | XP_016867146.1:p.Arg1894Gln | |
| XM_017011658.2:c.4565G>A (AKAP9) | XP_016867147.1:p.Arg1522Gln | |
| XM_017011659.2:c.4526G>A (AKAP9) | XP_016867148.1:p.Arg1509Gln | |
| XM_017011660.2:c.4526G>A (AKAP9) | XP_016867149.1:p.Arg1509Gln | |
| XM_024446631.1:c.9779G>A (AKAP9) | XP_024302399.1:p.Arg3260Gln | |
| NM_147185.3:c.9857G>A (AKAP9) | NP_671714.1:p.Arg3286Gln | |
| NM_001379277.1:c.4526G>A (AKAP9) | NP_001366206.1:p.Arg1509Gln | |
| NM_005751.5:c.9881G>A (AKAP9) MANE Select | NP_005742.4:p.Arg3294Gln |