Linked Data
ClinVar Variation Id:
487596
dbSNP Id:
rs137892407
ExAC:
7:91732107 G / A
gnomAD v2:
7-91732107-G-A
gnomAD v3:
7-92102793-G-A
gnomAD v4:
7-92102793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92102793G>A , CM000669.2:g.92102793G>A | GRCh38 |
| NC_000007.13:g.91732107G>A , CM000669.1:g.91732107G>A | GRCh37 |
| NC_000007.12:g.91570043G>A | NCBI36 |
| NG_011623.1:g.166919G>A , LRG_331:g.166919G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+14251C>T (CYP51A1) | ENSP00000510368.1:n.1351+14251C>T | |
| ENST00000356239.8:c.11297G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Arg3766Gln | |
| ENST00000359028.7:c.11369G>A (AKAP9) | ENSP00000351922.4:p.Arg3790Gln | |
| ENST00000394534.7:c.4289G>A (AKAP9) | ENSP00000378042.3:p.Arg1430Gln | |
| ENST00000463118.2:n.552G>A (AKAP9) | ||
| ENST00000486313.2:c.785G>A (AKAP9) | ENSP00000505389.1:p.Arg262Gln | |
| ENST00000487692.2:n.3175+1737G>A (AKAP9) | ||
| ENST00000491695.2:c.5942G>A (AKAP9) | ENSP00000494626.2:p.Arg1981Gln | |
| ENST00000679448.1:c.*2177G>A (AKAP9) | ENSP00000505889.1:n.*2177G>A | |
| ENST00000679457.1:c.11273G>A (AKAP9) | ENSP00000505450.1:p.Arg3758Gln | |
| ENST00000679474.1:n.12481G>A (AKAP9) | ||
| ENST00000679521.1:c.11243G>A (AKAP9) | ENSP00000505456.1:p.Arg3748Gln | |
| ENST00000679821.1:c.11039G>A (AKAP9) | ENSP00000506040.1:p.Arg3680Gln | |
| ENST00000680047.1:n.12967G>A (AKAP9) | ||
| ENST00000680072.1:c.11120G>A (AKAP9) | ENSP00000506581.1:p.Arg3707Gln | |
| ENST00000680181.1:c.11204G>A (AKAP9) | ENSP00000505548.1:p.Arg3735Gln | |
| ENST00000680365.1:c.4936G>A (AKAP9) | ENSP00000506019.1:n.4936G>A | |
| ENST00000680513.1:c.11156G>A (AKAP9) | ENSP00000505284.1:p.Arg3719Gln | |
| ENST00000680534.1:c.11336G>A (AKAP9) | ENSP00000506674.1:p.Arg3779Gln | |
| ENST00000680766.1:c.11273G>A (AKAP9) | ENSP00000505204.1:p.Arg3758Gln | |
| ENST00000680952.1:c.11273G>A (AKAP9) | ENSP00000506407.1:p.Arg3758Gln | |
| ENST00000681216.1:c.5057G>A (AKAP9) | ENSP00000505551.1:n.5057G>A | |
| ENST00000681412.1:c.11297G>A (AKAP9) | ENSP00000506486.1:p.Arg3766Gln | |
| ENST00000681722.1:c.11273G>A (AKAP9) | ENSP00000506566.1:p.Arg3758Gln | |
| ENST00000356239.7:c.11297G>A (AKAP9) | ENSP00000348573.3:p.Arg3766Gln | |
| ENST00000359028.6:c.11306G>A (AKAP9) | ENSP00000351922.3:p.Arg3769Gln | |
| ENST00000394534.6:c.4835G>A (AKAP9) | ENSP00000378042.2:p.Arg1612Gln | |
| ENST00000463118.1:n.552G>A (AKAP9) | ||
| ENST00000486313.1:n.205G>A (AKAP9) | ||
| ENST00000487258.5:n.3047G>A (AKAP9) | ||
| NM_005751.4:c.11297G>A , LRG_331t1:c.11297G>A (AKAP9) | NP_005742.4:p.Arg3766Gln | |
| NM_147185.2:c.11273G>A (AKAP9) | NP_671714.1:p.Arg3758Gln | |
| XM_006715827.1:c.11156G>A (AKAP9) | XP_006715890.1:p.Arg3719Gln | |
| XM_011515709.1:c.11444G>A (AKAP9) | XP_011514011.1:p.Arg3815Gln | |
| XM_011515710.1:c.11468G>A (AKAP9) | XP_011514012.1:p.Arg3823Gln | |
| XM_011515711.1:c.11408G>A (AKAP9) | XP_011514013.1:p.Arg3803Gln | |
| XM_011515712.1:c.11405G>A (AKAP9) | XP_011514014.1:p.Arg3802Gln | |
| XM_011515713.1:c.11390G>A (AKAP9) | XP_011514015.1:p.Arg3797Gln | |
| XM_011515714.1:c.11429G>A (AKAP9) | XP_011514016.1:p.Arg3810Gln | |
| XM_011515716.1:c.11348G>A (AKAP9) | XP_011514018.1:p.Arg3783Gln | |
| XM_011515717.1:c.11303G>A (AKAP9) | XP_011514019.1:p.Arg3768Gln | |
| XM_011515718.1:c.11333G>A (AKAP9) | XP_011514020.1:p.Arg3778Gln | |
| XM_011515719.1:c.11309G>A (AKAP9) | XP_011514021.1:p.Arg3770Gln | |
| XM_011515721.1:c.5957G>A (AKAP9) | XP_011514023.1:p.Arg1986Gln | |
| XM_011515722.1:c.5918G>A (AKAP9) | XP_011514024.1:p.Arg1973Gln | |
| XM_017011642.2:c.11432G>A (AKAP9) | XP_016867131.1:p.Arg3811Gln | |
| XM_017011643.2:c.11393G>A (AKAP9) | XP_016867132.1:p.Arg3798Gln | |
| XM_017011644.2:c.11432G>A (AKAP9) | XP_016867133.1:p.Arg3811Gln | |
| XM_017011645.2:c.11378G>A (AKAP9) | XP_016867134.1:p.Arg3793Gln | |
| XM_017011646.2:c.11393G>A (AKAP9) | XP_016867135.1:p.Arg3798Gln | |
| XM_017011647.2:c.11339G>A (AKAP9) | XP_016867136.1:p.Arg3780Gln | |
| XM_017011648.2:c.11336G>A (AKAP9) | XP_016867137.1:p.Arg3779Gln | |
| XM_017011649.2:c.11369G>A (AKAP9) | XP_016867138.1:p.Arg3790Gln | |
| XM_017011650.2:c.11297G>A (AKAP9) | XP_016867139.1:p.Arg3766Gln | |
| XM_017011651.2:c.11291G>A (AKAP9) | XP_016867140.1:p.Arg3764Gln | |
| XM_017011652.2:c.11243G>A (AKAP9) | XP_016867141.1:p.Arg3748Gln | |
| XM_017011653.2:c.11204G>A (AKAP9) | XP_016867142.1:p.Arg3735Gln | |
| XM_017011654.2:c.11156G>A (AKAP9) | XP_016867143.1:p.Arg3719Gln | |
| XM_017011655.2:c.11060G>A (AKAP9) | XP_016867144.1:p.Arg3687Gln | |
| XM_017011656.2:c.11060G>A (AKAP9) | XP_016867145.1:p.Arg3687Gln | |
| XM_017011657.2:c.7097G>A (AKAP9) | XP_016867146.1:p.Arg2366Gln | |
| XM_017011658.2:c.5981G>A (AKAP9) | XP_016867147.1:p.Arg1994Gln | |
| XM_017011659.2:c.5942G>A (AKAP9) | XP_016867148.1:p.Arg1981Gln | |
| XM_017011660.2:c.5942G>A (AKAP9) | XP_016867149.1:p.Arg1981Gln | |
| XM_024446631.1:c.11195G>A (AKAP9) | XP_024302399.1:p.Arg3732Gln | |
| NM_147185.3:c.11273G>A (AKAP9) | NP_671714.1:p.Arg3758Gln | |
| NM_001379277.1:c.5942G>A (AKAP9) | NP_001366206.1:p.Arg1981Gln | |
| NM_005751.5:c.11297G>A (AKAP9) MANE Select | NP_005742.4:p.Arg3766Gln |