Linked Data
ClinVar Variation Id:
240266
dbSNP Id:
rs146710448
ExAC:
7:91724406 A / G
gnomAD v2:
7-91724406-A-G
gnomAD v3:
7-92095092-A-G
gnomAD v4:
7-92095092-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92095092A>G , CM000669.2:g.92095092A>G | GRCh38 |
| NC_000007.13:g.91724406A>G , CM000669.1:g.91724406A>G | GRCh37 |
| NC_000007.12:g.91562342A>G | NCBI36 |
| NG_011623.1:g.159218A>G , LRG_331:g.159218A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-9490T>C (CYP51A1) | ENSP00000510368.1:n.1352-9490T>C | |
| ENST00000356239.8:c.9648A>G (AKAP9) MANE Select | ENSP00000348573.3:p.Lys3216= | |
| ENST00000359028.7:c.9720A>G (AKAP9) | ENSP00000351922.4:p.Lys3240= | |
| ENST00000394534.7:c.3141A>G (AKAP9) | ENSP00000378042.3:p.Lys1047= | |
| ENST00000487692.2:n.1726A>G (AKAP9) | ||
| ENST00000491695.2:c.4293A>G (AKAP9) | ENSP00000494626.2:p.Lys1431= | |
| ENST00000679448.1:c.*528A>G (AKAP9) | ENSP00000505889.1:n.*528A>G | |
| ENST00000679457.1:c.9624A>G (AKAP9) | ENSP00000505450.1:p.Lys3208= | |
| ENST00000679474.1:n.9846A>G (AKAP9) | ||
| ENST00000679521.1:c.9594A>G (AKAP9) | ENSP00000505456.1:p.Lys3198= | |
| ENST00000679821.1:c.9390A>G (AKAP9) | ENSP00000506040.1:p.Lys3130= | |
| ENST00000680047.1:n.9846A>G (AKAP9) | ||
| ENST00000680072.1:c.9471A>G (AKAP9) | ENSP00000506581.1:p.Lys3157= | |
| ENST00000680181.1:c.9555A>G (AKAP9) | ENSP00000505548.1:p.Lys3185= | |
| ENST00000680365.1:c.3141A>G (AKAP9) | ENSP00000506019.1:p.Lys1047= | |
| ENST00000680513.1:c.9507A>G (AKAP9) | ENSP00000505284.1:p.Lys3169= | |
| ENST00000680534.1:c.9687A>G (AKAP9) | ENSP00000506674.1:p.Lys3229= | |
| ENST00000680766.1:c.9624A>G (AKAP9) | ENSP00000505204.1:p.Lys3208= | |
| ENST00000680952.1:c.9624A>G (AKAP9) | ENSP00000506407.1:p.Lys3208= | |
| ENST00000681216.1:c.3408A>G (AKAP9) | ENSP00000505551.1:n.3408A>G | |
| ENST00000681412.1:c.9648A>G (AKAP9) | ENSP00000506486.1:p.Lys3216= | |
| ENST00000681722.1:c.9624A>G (AKAP9) | ENSP00000506566.1:p.Lys3208= | |
| ENST00000356239.7:c.9648A>G (AKAP9) | ENSP00000348573.3:p.Lys3216= | |
| ENST00000359028.6:c.9657A>G (AKAP9) | ENSP00000351922.3:p.Lys3219= | |
| ENST00000394534.6:c.3186A>G (AKAP9) | ENSP00000378042.2:p.Lys1062= | |
| ENST00000487258.5:n.1398A>G (AKAP9) | ||
| NM_005751.4:c.9648A>G , LRG_331t1:c.9648A>G (AKAP9) | NP_005742.4:p.Lys3216= | |
| NM_147185.2:c.9624A>G (AKAP9) | NP_671714.1:p.Lys3208= | |
| XM_006715827.1:c.9507A>G (AKAP9) | XP_006715890.1:p.Lys3169= | |
| XM_011515709.1:c.9795A>G (AKAP9) | XP_011514011.1:p.Lys3265= | |
| XM_011515710.1:c.9819A>G (AKAP9) | XP_011514012.1:p.Lys3273= | |
| XM_011515711.1:c.9759A>G (AKAP9) | XP_011514013.1:p.Lys3253= | |
| XM_011515712.1:c.9756A>G (AKAP9) | XP_011514014.1:p.Lys3252= | |
| XM_011515713.1:c.9741A>G (AKAP9) | XP_011514015.1:p.Lys3247= | |
| XM_011515714.1:c.9780A>G (AKAP9) | XP_011514016.1:p.Lys3260= | |
| XM_011515716.1:c.9699A>G (AKAP9) | XP_011514018.1:p.Lys3233= | |
| XM_011515717.1:c.9654A>G (AKAP9) | XP_011514019.1:p.Lys3218= | |
| XM_011515718.1:c.9684A>G (AKAP9) | XP_011514020.1:p.Lys3228= | |
| XM_011515719.1:c.9660A>G (AKAP9) | XP_011514021.1:p.Lys3220= | |
| XM_011515721.1:c.4308A>G (AKAP9) | XP_011514023.1:p.Lys1436= | |
| XM_011515722.1:c.4269A>G (AKAP9) | XP_011514024.1:p.Lys1423= | |
| XM_017011642.2:c.9783A>G (AKAP9) | XP_016867131.1:p.Lys3261= | |
| XM_017011643.2:c.9744A>G (AKAP9) | XP_016867132.1:p.Lys3248= | |
| XM_017011644.2:c.9783A>G (AKAP9) | XP_016867133.1:p.Lys3261= | |
| XM_017011645.2:c.9729A>G (AKAP9) | XP_016867134.1:p.Lys3243= | |
| XM_017011646.2:c.9744A>G (AKAP9) | XP_016867135.1:p.Lys3248= | |
| XM_017011647.2:c.9690A>G (AKAP9) | XP_016867136.1:p.Lys3230= | |
| XM_017011648.2:c.9687A>G (AKAP9) | XP_016867137.1:p.Lys3229= | |
| XM_017011649.2:c.9720A>G (AKAP9) | XP_016867138.1:p.Lys3240= | |
| XM_017011650.2:c.9648A>G (AKAP9) | XP_016867139.1:p.Lys3216= | |
| XM_017011651.2:c.9642A>G (AKAP9) | XP_016867140.1:p.Lys3214= | |
| XM_017011652.2:c.9594A>G (AKAP9) | XP_016867141.1:p.Lys3198= | |
| XM_017011653.2:c.9555A>G (AKAP9) | XP_016867142.1:p.Lys3185= | |
| XM_017011654.2:c.9507A>G (AKAP9) | XP_016867143.1:p.Lys3169= | |
| XM_017011655.2:c.9411A>G (AKAP9) | XP_016867144.1:p.Lys3137= | |
| XM_017011656.2:c.9411A>G (AKAP9) | XP_016867145.1:p.Lys3137= | |
| XM_017011657.2:c.5448A>G (AKAP9) | XP_016867146.1:p.Lys1816= | |
| XM_017011658.2:c.4332A>G (AKAP9) | XP_016867147.1:p.Lys1444= | |
| XM_017011659.2:c.4293A>G (AKAP9) | XP_016867148.1:p.Lys1431= | |
| XM_017011660.2:c.4293A>G (AKAP9) | XP_016867149.1:p.Lys1431= | |
| XM_024446631.1:c.9546A>G (AKAP9) | XP_024302399.1:p.Lys3182= | |
| NM_147185.3:c.9624A>G (AKAP9) | NP_671714.1:p.Lys3208= | |
| NM_001379277.1:c.4293A>G (AKAP9) | NP_001366206.1:p.Lys1431= | |
| NM_005751.5:c.9648A>G (AKAP9) MANE Select | NP_005742.4:p.Lys3216= |