Linked Data
ClinVar Variation Id:
191532
dbSNP Id:
rs199527737
ExAC:
7:91735023 G / C
gnomAD v2:
7-91735023-G-C
gnomAD v3:
7-92105709-G-C
gnomAD v4:
7-92105709-G-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92105709G>C , CM000669.2:g.92105709G>C | GRCh38 |
| NC_000007.13:g.91735023G>C , CM000669.1:g.91735023G>C | GRCh37 |
| NC_000007.12:g.91572959G>C | NCBI36 |
| NG_011623.1:g.169835G>C , LRG_331:g.169835G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+11335C>G (CYP51A1) | ENSP00000510368.1:n.1351+11335C>G | |
| ENST00000356239.8:c.11362G>C (AKAP9) MANE Select | ENSP00000348573.3:p.Val3788Leu | |
| ENST00000359028.7:c.11434G>C (AKAP9) | ENSP00000351922.4:p.Val3812Leu | |
| ENST00000394534.7:c.4354G>C (AKAP9) | ENSP00000378042.3:p.Val1452Leu | |
| ENST00000463118.2:n.617G>C (AKAP9) | ||
| ENST00000486313.2:c.818+2883G>C (AKAP9) | ENSP00000505389.1:n.818+2883G>C | |
| ENST00000487692.2:n.3176-1584G>C (AKAP9) | ||
| ENST00000491695.2:c.6007G>C (AKAP9) | ENSP00000494626.2:p.Val2003Leu | |
| ENST00000679448.1:c.*2242G>C (AKAP9) | ENSP00000505889.1:n.*2242G>C | |
| ENST00000679457.1:c.11307-1584G>C (AKAP9) | ENSP00000505450.1:n.11307-1584G>C | |
| ENST00000679474.1:n.12546G>C (AKAP9) | ||
| ENST00000679521.1:c.11308G>C (AKAP9) | ENSP00000505456.1:p.Val3770Leu | |
| ENST00000679821.1:c.11104G>C (AKAP9) | ENSP00000506040.1:p.Val3702Leu | |
| ENST00000680047.1:n.13032G>C (AKAP9) | ||
| ENST00000680072.1:c.11185G>C (AKAP9) | ENSP00000506581.1:p.Val3729Leu | |
| ENST00000680181.1:c.11269G>C (AKAP9) | ENSP00000505548.1:p.Val3757Leu | |
| ENST00000680365.1:c.5001G>C (AKAP9) | ENSP00000506019.1:n.5001G>C | |
| ENST00000680513.1:c.11221G>C (AKAP9) | ENSP00000505284.1:p.Val3741Leu | |
| ENST00000680534.1:c.11401G>C (AKAP9) | ENSP00000506674.1:p.Val3801Leu | |
| ENST00000680766.1:c.11338G>C (AKAP9) | ENSP00000505204.1:p.Val3780Leu | |
| ENST00000680952.1:c.11307-2785G>C (AKAP9) | ENSP00000506407.1:n.11307-2785G>C | |
| ENST00000681216.1:c.5122G>C (AKAP9) | ENSP00000505551.1:n.5122G>C | |
| ENST00000681412.1:c.11362G>C (AKAP9) | ENSP00000506486.1:p.Val3788Leu | |
| ENST00000681722.1:c.11338G>C (AKAP9) | ENSP00000506566.1:p.Val3780Leu | |
| ENST00000356239.7:c.11362G>C (AKAP9) | ENSP00000348573.3:p.Val3788Leu | |
| ENST00000359028.6:c.11371G>C (AKAP9) | ENSP00000351922.3:p.Val3791Leu | |
| ENST00000394534.6:c.4900G>C (AKAP9) | ENSP00000378042.2:p.Val1634Leu | |
| ENST00000463118.1:n.617G>C (AKAP9) | ||
| ENST00000486313.1:n.238+2883G>C (AKAP9) | ||
| ENST00000487258.5:n.3112G>C (AKAP9) | ||
| ENST00000493976.1:n.33G>C (AKAP9) | ||
| NM_005751.4:c.11362G>C , LRG_331t1:c.11362G>C (AKAP9) | NP_005742.4:p.Val3788Leu | |
| NM_147185.2:c.11338G>C (AKAP9) | NP_671714.1:p.Val3780Leu | |
| XM_006715827.1:c.11221G>C (AKAP9) | XP_006715890.1:p.Val3741Leu | |
| XM_011515709.1:c.11509G>C (AKAP9) | XP_011514011.1:p.Val3837Leu | |
| XM_011515710.1:c.11533G>C (AKAP9) | XP_011514012.1:p.Val3845Leu | |
| XM_011515711.1:c.11473G>C (AKAP9) | XP_011514013.1:p.Val3825Leu | |
| XM_011515712.1:c.11470G>C (AKAP9) | XP_011514014.1:p.Val3824Leu | |
| XM_011515713.1:c.11455G>C (AKAP9) | XP_011514015.1:p.Val3819Leu | |
| XM_011515714.1:c.11494G>C (AKAP9) | XP_011514016.1:p.Val3832Leu | |
| XM_011515716.1:c.11413G>C (AKAP9) | XP_011514018.1:p.Val3805Leu | |
| XM_011515717.1:c.11368G>C (AKAP9) | XP_011514019.1:p.Val3790Leu | |
| XM_011515718.1:c.11398G>C (AKAP9) | XP_011514020.1:p.Val3800Leu | |
| XM_011515719.1:c.11374G>C (AKAP9) | XP_011514021.1:p.Val3792Leu | |
| XM_011515721.1:c.6022G>C (AKAP9) | XP_011514023.1:p.Val2008Leu | |
| XM_011515722.1:c.5983G>C (AKAP9) | XP_011514024.1:p.Val1995Leu | |
| XM_017011642.2:c.11497G>C (AKAP9) | XP_016867131.1:p.Val3833Leu | |
| XM_017011643.2:c.11458G>C (AKAP9) | XP_016867132.1:p.Val3820Leu | |
| XM_017011644.2:c.11497G>C (AKAP9) | XP_016867133.1:p.Val3833Leu | |
| XM_017011645.2:c.11443G>C (AKAP9) | XP_016867134.1:p.Val3815Leu | |
| XM_017011646.2:c.11458G>C (AKAP9) | XP_016867135.1:p.Val3820Leu | |
| XM_017011647.2:c.11404G>C (AKAP9) | XP_016867136.1:p.Val3802Leu | |
| XM_017011648.2:c.11401G>C (AKAP9) | XP_016867137.1:p.Val3801Leu | |
| XM_017011649.2:c.11434G>C (AKAP9) | XP_016867138.1:p.Val3812Leu | |
| XM_017011650.2:c.11362G>C (AKAP9) | XP_016867139.1:p.Val3788Leu | |
| XM_017011651.2:c.11356G>C (AKAP9) | XP_016867140.1:p.Val3786Leu | |
| XM_017011652.2:c.11308G>C (AKAP9) | XP_016867141.1:p.Val3770Leu | |
| XM_017011653.2:c.11269G>C (AKAP9) | XP_016867142.1:p.Val3757Leu | |
| XM_017011654.2:c.11221G>C (AKAP9) | XP_016867143.1:p.Val3741Leu | |
| XM_017011655.2:c.11125G>C (AKAP9) | XP_016867144.1:p.Val3709Leu | |
| XM_017011656.2:c.11125G>C (AKAP9) | XP_016867145.1:p.Val3709Leu | |
| XM_017011657.2:c.7162G>C (AKAP9) | XP_016867146.1:p.Val2388Leu | |
| XM_017011658.2:c.6046G>C (AKAP9) | XP_016867147.1:p.Val2016Leu | |
| XM_017011659.2:c.6007G>C (AKAP9) | XP_016867148.1:p.Val2003Leu | |
| XM_017011660.2:c.6007G>C (AKAP9) | XP_016867149.1:p.Val2003Leu | |
| XM_024446631.1:c.11260G>C (AKAP9) | XP_024302399.1:p.Val3754Leu | |
| NM_147185.3:c.11338G>C (AKAP9) | NP_671714.1:p.Val3780Leu | |
| NM_001379277.1:c.6007G>C (AKAP9) | NP_001366206.1:p.Val2003Leu | |
| NM_005751.5:c.11362G>C (AKAP9) MANE Select | NP_005742.4:p.Val3788Leu |