Linked Data
ClinVar Variation Id:
527021
dbSNP Id:
rs781775348
ExAC:
7:91726493 A / C
gnomAD v2:
7-91726493-A-C
gnomAD v3:
7-92097179-A-C
gnomAD v4:
7-92097179-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92097179A>C , CM000669.2:g.92097179A>C | GRCh38 |
| NC_000007.13:g.91726493A>C , CM000669.1:g.91726493A>C | GRCh37 |
| NC_000007.12:g.91564429A>C | NCBI36 |
| NG_011623.1:g.161305A>C , LRG_331:g.161305A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-11577T>G (CYP51A1) | ENSP00000510368.1:n.1352-11577T>G | |
| ENST00000356239.8:c.10220A>C (AKAP9) MANE Select | ENSP00000348573.3:p.Glu3407Ala | |
| ENST00000359028.7:c.10292A>C (AKAP9) | ENSP00000351922.4:p.Glu3431Ala | |
| ENST00000394534.7:c.3390+323A>C (AKAP9) | ENSP00000378042.3:n.3390+323A>C | |
| ENST00000487692.2:n.2298A>C (AKAP9) | ||
| ENST00000491695.2:c.4865A>C (AKAP9) | ENSP00000494626.2:p.Glu1622Ala | |
| ENST00000679448.1:c.*1100A>C (AKAP9) | ENSP00000505889.1:n.*1100A>C | |
| ENST00000679457.1:c.10196A>C (AKAP9) | ENSP00000505450.1:p.Glu3399Ala | |
| ENST00000679474.1:n.10418A>C (AKAP9) | ||
| ENST00000679521.1:c.10166A>C (AKAP9) | ENSP00000505456.1:p.Glu3389Ala | |
| ENST00000679821.1:c.9962A>C (AKAP9) | ENSP00000506040.1:p.Glu3321Ala | |
| ENST00000680047.1:n.10418A>C (AKAP9) | ||
| ENST00000680072.1:c.10043A>C (AKAP9) | ENSP00000506581.1:p.Glu3348Ala | |
| ENST00000680181.1:c.10127A>C (AKAP9) | ENSP00000505548.1:p.Glu3376Ala | |
| ENST00000680365.1:c.3859A>C (AKAP9) | ENSP00000506019.1:n.3859A>C | |
| ENST00000680513.1:c.10079A>C (AKAP9) | ENSP00000505284.1:p.Glu3360Ala | |
| ENST00000680534.1:c.10259A>C (AKAP9) | ENSP00000506674.1:p.Glu3420Ala | |
| ENST00000680766.1:c.10196A>C (AKAP9) | ENSP00000505204.1:p.Glu3399Ala | |
| ENST00000680952.1:c.10196A>C (AKAP9) | ENSP00000506407.1:p.Glu3399Ala | |
| ENST00000681216.1:c.3980A>C (AKAP9) | ENSP00000505551.1:n.3980A>C | |
| ENST00000681412.1:c.10220A>C (AKAP9) | ENSP00000506486.1:p.Glu3407Ala | |
| ENST00000681722.1:c.10196A>C (AKAP9) | ENSP00000506566.1:p.Glu3399Ala | |
| ENST00000356239.7:c.10220A>C (AKAP9) | ENSP00000348573.3:p.Glu3407Ala | |
| ENST00000359028.6:c.10229A>C (AKAP9) | ENSP00000351922.3:p.Glu3410Ala | |
| ENST00000394534.6:c.3758A>C (AKAP9) | ENSP00000378042.2:p.Glu1253Ala | |
| ENST00000487258.5:n.1970A>C (AKAP9) | ||
| ENST00000487692.1:n.20A>C (AKAP9) | ||
| NM_005751.4:c.10220A>C , LRG_331t1:c.10220A>C (AKAP9) | NP_005742.4:p.Glu3407Ala | |
| NM_147185.2:c.10196A>C (AKAP9) | NP_671714.1:p.Glu3399Ala | |
| XM_006715827.1:c.10079A>C (AKAP9) | XP_006715890.1:p.Glu3360Ala | |
| XM_011515709.1:c.10367A>C (AKAP9) | XP_011514011.1:p.Glu3456Ala | |
| XM_011515710.1:c.10391A>C (AKAP9) | XP_011514012.1:p.Glu3464Ala | |
| XM_011515711.1:c.10331A>C (AKAP9) | XP_011514013.1:p.Glu3444Ala | |
| XM_011515712.1:c.10328A>C (AKAP9) | XP_011514014.1:p.Glu3443Ala | |
| XM_011515713.1:c.10313A>C (AKAP9) | XP_011514015.1:p.Glu3438Ala | |
| XM_011515714.1:c.10352A>C (AKAP9) | XP_011514016.1:p.Glu3451Ala | |
| XM_011515716.1:c.10271A>C (AKAP9) | XP_011514018.1:p.Glu3424Ala | |
| XM_011515717.1:c.10226A>C (AKAP9) | XP_011514019.1:p.Glu3409Ala | |
| XM_011515718.1:c.10256A>C (AKAP9) | XP_011514020.1:p.Glu3419Ala | |
| XM_011515719.1:c.10232A>C (AKAP9) | XP_011514021.1:p.Glu3411Ala | |
| XM_011515721.1:c.4880A>C (AKAP9) | XP_011514023.1:p.Glu1627Ala | |
| XM_011515722.1:c.4841A>C (AKAP9) | XP_011514024.1:p.Glu1614Ala | |
| XM_017011642.2:c.10355A>C (AKAP9) | XP_016867131.1:p.Glu3452Ala | |
| XM_017011643.2:c.10316A>C (AKAP9) | XP_016867132.1:p.Glu3439Ala | |
| XM_017011644.2:c.10355A>C (AKAP9) | XP_016867133.1:p.Glu3452Ala | |
| XM_017011645.2:c.10301A>C (AKAP9) | XP_016867134.1:p.Glu3434Ala | |
| XM_017011646.2:c.10316A>C (AKAP9) | XP_016867135.1:p.Glu3439Ala | |
| XM_017011647.2:c.10262A>C (AKAP9) | XP_016867136.1:p.Glu3421Ala | |
| XM_017011648.2:c.10259A>C (AKAP9) | XP_016867137.1:p.Glu3420Ala | |
| XM_017011649.2:c.10292A>C (AKAP9) | XP_016867138.1:p.Glu3431Ala | |
| XM_017011650.2:c.10220A>C (AKAP9) | XP_016867139.1:p.Glu3407Ala | |
| XM_017011651.2:c.10214A>C (AKAP9) | XP_016867140.1:p.Glu3405Ala | |
| XM_017011652.2:c.10166A>C (AKAP9) | XP_016867141.1:p.Glu3389Ala | |
| XM_017011653.2:c.10127A>C (AKAP9) | XP_016867142.1:p.Glu3376Ala | |
| XM_017011654.2:c.10079A>C (AKAP9) | XP_016867143.1:p.Glu3360Ala | |
| XM_017011655.2:c.9983A>C (AKAP9) | XP_016867144.1:p.Glu3328Ala | |
| XM_017011656.2:c.9983A>C (AKAP9) | XP_016867145.1:p.Glu3328Ala | |
| XM_017011657.2:c.6020A>C (AKAP9) | XP_016867146.1:p.Glu2007Ala | |
| XM_017011658.2:c.4904A>C (AKAP9) | XP_016867147.1:p.Glu1635Ala | |
| XM_017011659.2:c.4865A>C (AKAP9) | XP_016867148.1:p.Glu1622Ala | |
| XM_017011660.2:c.4865A>C (AKAP9) | XP_016867149.1:p.Glu1622Ala | |
| XM_024446631.1:c.10118A>C (AKAP9) | XP_024302399.1:p.Glu3373Ala | |
| NM_147185.3:c.10196A>C (AKAP9) | NP_671714.1:p.Glu3399Ala | |
| NM_001379277.1:c.4865A>C (AKAP9) | NP_001366206.1:p.Glu1622Ala | |
| NM_005751.5:c.10220A>C (AKAP9) MANE Select | NP_005742.4:p.Glu3407Ala |