Linked Data
ClinVar Variation Id:
360850
ClinVar RCV Id:
RCV002253391
dbSNP Id:
rs138739292
ExAC:
7:91729132 G / A
gnomAD v2:
7-91729132-G-A
gnomAD v3:
7-92099818-G-A
gnomAD v4:
7-92099818-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92099818G>A , CM000669.2:g.92099818G>A | GRCh38 |
| NC_000007.13:g.91729132G>A , CM000669.1:g.91729132G>A | GRCh37 |
| NC_000007.12:g.91567068G>A | NCBI36 |
| NG_011623.1:g.163944G>A , LRG_331:g.163944G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691309.1:c.1352-14216C>T (CYP51A1) | ENSP00000510368.1:n.1352-14216C>T | |
| ENST00000356239.8:c.10845G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Lys3615= | |
| ENST00000359028.7:c.10917G>A (AKAP9) | ENSP00000351922.4:p.Lys3639= | |
| ENST00000394534.7:c.3837G>A (AKAP9) | ENSP00000378042.3:p.Lys1279= | |
| ENST00000463118.2:n.193G>A (AKAP9) | ||
| ENST00000486313.2:c.333G>A (AKAP9) | ENSP00000505389.1:p.Lys111= | |
| ENST00000487692.2:n.2923G>A (AKAP9) | ||
| ENST00000491695.2:c.5490G>A (AKAP9) | ENSP00000494626.2:p.Lys1830= | |
| ENST00000679448.1:c.*1725G>A (AKAP9) | ENSP00000505889.1:n.*1725G>A | |
| ENST00000679457.1:c.10821G>A (AKAP9) | ENSP00000505450.1:p.Lys3607= | |
| ENST00000679474.1:n.11043G>A (AKAP9) | ||
| ENST00000679521.1:c.10791G>A (AKAP9) | ENSP00000505456.1:p.Lys3597= | |
| ENST00000679821.1:c.10587G>A (AKAP9) | ENSP00000506040.1:p.Lys3529= | |
| ENST00000680047.1:n.12515G>A (AKAP9) | ||
| ENST00000680072.1:c.10668G>A (AKAP9) | ENSP00000506581.1:p.Lys3556= | |
| ENST00000680181.1:c.10752G>A (AKAP9) | ENSP00000505548.1:p.Lys3584= | |
| ENST00000680365.1:c.4484G>A (AKAP9) | ENSP00000506019.1:n.4484G>A | |
| ENST00000680513.1:c.10704G>A (AKAP9) | ENSP00000505284.1:p.Lys3568= | |
| ENST00000680534.1:c.10884G>A (AKAP9) | ENSP00000506674.1:p.Lys3628= | |
| ENST00000680766.1:c.10821G>A (AKAP9) | ENSP00000505204.1:p.Lys3607= | |
| ENST00000680952.1:c.10821G>A (AKAP9) | ENSP00000506407.1:p.Lys3607= | |
| ENST00000681216.1:c.4605G>A (AKAP9) | ENSP00000505551.1:n.4605G>A | |
| ENST00000681412.1:c.10845G>A (AKAP9) | ENSP00000506486.1:p.Lys3615= | |
| ENST00000681722.1:c.10821G>A (AKAP9) | ENSP00000506566.1:p.Lys3607= | |
| ENST00000356239.7:c.10845G>A (AKAP9) | ENSP00000348573.3:p.Lys3615= | |
| ENST00000359028.6:c.10854G>A (AKAP9) | ENSP00000351922.3:p.Lys3618= | |
| ENST00000394534.6:c.4383G>A (AKAP9) | ENSP00000378042.2:p.Lys1461= | |
| ENST00000463118.1:n.193G>A (AKAP9) | ||
| ENST00000487258.5:n.2595G>A (AKAP9) | ||
| ENST00000487692.1:n.645G>A (AKAP9) | ||
| NM_005751.4:c.10845G>A , LRG_331t1:c.10845G>A (AKAP9) | NP_005742.4:p.Lys3615= | |
| NM_147185.2:c.10821G>A (AKAP9) | NP_671714.1:p.Lys3607= | |
| XM_006715827.1:c.10704G>A (AKAP9) | XP_006715890.1:p.Lys3568= | |
| XM_011515709.1:c.10992G>A (AKAP9) | XP_011514011.1:p.Lys3664= | |
| XM_011515710.1:c.11016G>A (AKAP9) | XP_011514012.1:p.Lys3672= | |
| XM_011515711.1:c.10956G>A (AKAP9) | XP_011514013.1:p.Lys3652= | |
| XM_011515712.1:c.10953G>A (AKAP9) | XP_011514014.1:p.Lys3651= | |
| XM_011515713.1:c.10938G>A (AKAP9) | XP_011514015.1:p.Lys3646= | |
| XM_011515714.1:c.10977G>A (AKAP9) | XP_011514016.1:p.Lys3659= | |
| XM_011515716.1:c.10896G>A (AKAP9) | XP_011514018.1:p.Lys3632= | |
| XM_011515717.1:c.10851G>A (AKAP9) | XP_011514019.1:p.Lys3617= | |
| XM_011515718.1:c.10881G>A (AKAP9) | XP_011514020.1:p.Lys3627= | |
| XM_011515719.1:c.10857G>A (AKAP9) | XP_011514021.1:p.Lys3619= | |
| XM_011515721.1:c.5505G>A (AKAP9) | XP_011514023.1:p.Lys1835= | |
| XM_011515722.1:c.5466G>A (AKAP9) | XP_011514024.1:p.Lys1822= | |
| XM_017011642.2:c.10980G>A (AKAP9) | XP_016867131.1:p.Lys3660= | |
| XM_017011643.2:c.10941G>A (AKAP9) | XP_016867132.1:p.Lys3647= | |
| XM_017011644.2:c.10980G>A (AKAP9) | XP_016867133.1:p.Lys3660= | |
| XM_017011645.2:c.10926G>A (AKAP9) | XP_016867134.1:p.Lys3642= | |
| XM_017011646.2:c.10941G>A (AKAP9) | XP_016867135.1:p.Lys3647= | |
| XM_017011647.2:c.10887G>A (AKAP9) | XP_016867136.1:p.Lys3629= | |
| XM_017011648.2:c.10884G>A (AKAP9) | XP_016867137.1:p.Lys3628= | |
| XM_017011649.2:c.10917G>A (AKAP9) | XP_016867138.1:p.Lys3639= | |
| XM_017011650.2:c.10845G>A (AKAP9) | XP_016867139.1:p.Lys3615= | |
| XM_017011651.2:c.10839G>A (AKAP9) | XP_016867140.1:p.Lys3613= | |
| XM_017011652.2:c.10791G>A (AKAP9) | XP_016867141.1:p.Lys3597= | |
| XM_017011653.2:c.10752G>A (AKAP9) | XP_016867142.1:p.Lys3584= | |
| XM_017011654.2:c.10704G>A (AKAP9) | XP_016867143.1:p.Lys3568= | |
| XM_017011655.2:c.10608G>A (AKAP9) | XP_016867144.1:p.Lys3536= | |
| XM_017011656.2:c.10608G>A (AKAP9) | XP_016867145.1:p.Lys3536= | |
| XM_017011657.2:c.6645G>A (AKAP9) | XP_016867146.1:p.Lys2215= | |
| XM_017011658.2:c.5529G>A (AKAP9) | XP_016867147.1:p.Lys1843= | |
| XM_017011659.2:c.5490G>A (AKAP9) | XP_016867148.1:p.Lys1830= | |
| XM_017011660.2:c.5490G>A (AKAP9) | XP_016867149.1:p.Lys1830= | |
| XM_024446631.1:c.10743G>A (AKAP9) | XP_024302399.1:p.Lys3581= | |
| NM_147185.3:c.10821G>A (AKAP9) | NP_671714.1:p.Lys3607= | |
| NM_001379277.1:c.5490G>A (AKAP9) | NP_001366206.1:p.Lys1830= | |
| NM_005751.5:c.10845G>A (AKAP9) MANE Select | NP_005742.4:p.Lys3615= |