Linked Data
ClinVar Variation Id:
234975
dbSNP Id:
rs140470576
ExAC:
7:91726391 C / G
gnomAD v2:
7-91726391-C-G
gnomAD v4:
7-92097077-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92097077C>G , CM000669.2:g.92097077C>G | GRCh38 |
| NC_000007.13:g.91726391C>G , CM000669.1:g.91726391C>G | GRCh37 |
| NC_000007.12:g.91564327C>G | NCBI36 |
| NG_011623.1:g.161203C>G , LRG_331:g.161203C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-11475G>C (CYP51A1) | ENSP00000510368.1:n.1352-11475G>C | |
| ENST00000356239.8:c.10118C>G (AKAP9) MANE Select | ENSP00000348573.3:p.Ser3373Cys | |
| ENST00000359028.7:c.10190C>G (AKAP9) | ENSP00000351922.4:p.Ser3397Cys | |
| ENST00000394534.7:c.3390+221C>G (AKAP9) | ENSP00000378042.3:n.3390+221C>G | |
| ENST00000487692.2:n.2196C>G (AKAP9) | ||
| ENST00000491695.2:c.4763C>G (AKAP9) | ENSP00000494626.2:p.Ser1588Cys | |
| ENST00000679448.1:c.*998C>G (AKAP9) | ENSP00000505889.1:n.*998C>G | |
| ENST00000679457.1:c.10094C>G (AKAP9) | ENSP00000505450.1:p.Ser3365Cys | |
| ENST00000679474.1:n.10316C>G (AKAP9) | ||
| ENST00000679521.1:c.10064C>G (AKAP9) | ENSP00000505456.1:p.Ser3355Cys | |
| ENST00000679821.1:c.9860C>G (AKAP9) | ENSP00000506040.1:p.Ser3287Cys | |
| ENST00000680047.1:n.10316C>G (AKAP9) | ||
| ENST00000680072.1:c.9941C>G (AKAP9) | ENSP00000506581.1:p.Ser3314Cys | |
| ENST00000680181.1:c.10025C>G (AKAP9) | ENSP00000505548.1:p.Ser3342Cys | |
| ENST00000680365.1:c.3757C>G (AKAP9) | ENSP00000506019.1:n.3757C>G | |
| ENST00000680513.1:c.9977C>G (AKAP9) | ENSP00000505284.1:p.Ser3326Cys | |
| ENST00000680534.1:c.10157C>G (AKAP9) | ENSP00000506674.1:p.Ser3386Cys | |
| ENST00000680766.1:c.10094C>G (AKAP9) | ENSP00000505204.1:p.Ser3365Cys | |
| ENST00000680952.1:c.10094C>G (AKAP9) | ENSP00000506407.1:p.Ser3365Cys | |
| ENST00000681216.1:c.3878C>G (AKAP9) | ENSP00000505551.1:n.3878C>G | |
| ENST00000681412.1:c.10118C>G (AKAP9) | ENSP00000506486.1:p.Ser3373Cys | |
| ENST00000681722.1:c.10094C>G (AKAP9) | ENSP00000506566.1:p.Ser3365Cys | |
| ENST00000356239.7:c.10118C>G (AKAP9) | ENSP00000348573.3:p.Ser3373Cys | |
| ENST00000359028.6:c.10127C>G (AKAP9) | ENSP00000351922.3:p.Ser3376Cys | |
| ENST00000394534.6:c.3656C>G (AKAP9) | ENSP00000378042.2:p.Ser1219Cys | |
| ENST00000487258.5:n.1868C>G (AKAP9) | ||
| NM_005751.4:c.10118C>G , LRG_331t1:c.10118C>G (AKAP9) | NP_005742.4:p.Ser3373Cys | |
| NM_147185.2:c.10094C>G (AKAP9) | NP_671714.1:p.Ser3365Cys | |
| XM_006715827.1:c.9977C>G (AKAP9) | XP_006715890.1:p.Ser3326Cys | |
| XM_011515709.1:c.10265C>G (AKAP9) | XP_011514011.1:p.Ser3422Cys | |
| XM_011515710.1:c.10289C>G (AKAP9) | XP_011514012.1:p.Ser3430Cys | |
| XM_011515711.1:c.10229C>G (AKAP9) | XP_011514013.1:p.Ser3410Cys | |
| XM_011515712.1:c.10226C>G (AKAP9) | XP_011514014.1:p.Ser3409Cys | |
| XM_011515713.1:c.10211C>G (AKAP9) | XP_011514015.1:p.Ser3404Cys | |
| XM_011515714.1:c.10250C>G (AKAP9) | XP_011514016.1:p.Ser3417Cys | |
| XM_011515716.1:c.10169C>G (AKAP9) | XP_011514018.1:p.Ser3390Cys | |
| XM_011515717.1:c.10124C>G (AKAP9) | XP_011514019.1:p.Ser3375Cys | |
| XM_011515718.1:c.10154C>G (AKAP9) | XP_011514020.1:p.Ser3385Cys | |
| XM_011515719.1:c.10130C>G (AKAP9) | XP_011514021.1:p.Ser3377Cys | |
| XM_011515721.1:c.4778C>G (AKAP9) | XP_011514023.1:p.Ser1593Cys | |
| XM_011515722.1:c.4739C>G (AKAP9) | XP_011514024.1:p.Ser1580Cys | |
| XM_017011642.2:c.10253C>G (AKAP9) | XP_016867131.1:p.Ser3418Cys | |
| XM_017011643.2:c.10214C>G (AKAP9) | XP_016867132.1:p.Ser3405Cys | |
| XM_017011644.2:c.10253C>G (AKAP9) | XP_016867133.1:p.Ser3418Cys | |
| XM_017011645.2:c.10199C>G (AKAP9) | XP_016867134.1:p.Ser3400Cys | |
| XM_017011646.2:c.10214C>G (AKAP9) | XP_016867135.1:p.Ser3405Cys | |
| XM_017011647.2:c.10160C>G (AKAP9) | XP_016867136.1:p.Ser3387Cys | |
| XM_017011648.2:c.10157C>G (AKAP9) | XP_016867137.1:p.Ser3386Cys | |
| XM_017011649.2:c.10190C>G (AKAP9) | XP_016867138.1:p.Ser3397Cys | |
| XM_017011650.2:c.10118C>G (AKAP9) | XP_016867139.1:p.Ser3373Cys | |
| XM_017011651.2:c.10112C>G (AKAP9) | XP_016867140.1:p.Ser3371Cys | |
| XM_017011652.2:c.10064C>G (AKAP9) | XP_016867141.1:p.Ser3355Cys | |
| XM_017011653.2:c.10025C>G (AKAP9) | XP_016867142.1:p.Ser3342Cys | |
| XM_017011654.2:c.9977C>G (AKAP9) | XP_016867143.1:p.Ser3326Cys | |
| XM_017011655.2:c.9881C>G (AKAP9) | XP_016867144.1:p.Ser3294Cys | |
| XM_017011656.2:c.9881C>G (AKAP9) | XP_016867145.1:p.Ser3294Cys | |
| XM_017011657.2:c.5918C>G (AKAP9) | XP_016867146.1:p.Ser1973Cys | |
| XM_017011658.2:c.4802C>G (AKAP9) | XP_016867147.1:p.Ser1601Cys | |
| XM_017011659.2:c.4763C>G (AKAP9) | XP_016867148.1:p.Ser1588Cys | |
| XM_017011660.2:c.4763C>G (AKAP9) | XP_016867149.1:p.Ser1588Cys | |
| XM_024446631.1:c.10016C>G (AKAP9) | XP_024302399.1:p.Ser3339Cys | |
| NM_147185.3:c.10094C>G (AKAP9) | NP_671714.1:p.Ser3365Cys | |
| NM_001379277.1:c.4763C>G (AKAP9) | NP_001366206.1:p.Ser1588Cys | |
| NM_005751.5:c.10118C>G (AKAP9) MANE Select | NP_005742.4:p.Ser3373Cys |