Linked Data
ClinVar Variation Id:
263701
dbSNP Id:
rs756398963
ExAC:
7:91737841 T / G
gnomAD v2:
7-91737841-T-G
gnomAD v3:
7-92108527-T-G
gnomAD v4:
7-92108527-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92108527T>G , CM000669.2:g.92108527T>G | GRCh38 |
| NC_000007.13:g.91737841T>G , CM000669.1:g.91737841T>G | GRCh37 |
| NC_000007.12:g.91575777T>G | NCBI36 |
| NG_011623.1:g.172653T>G , LRG_331:g.172653T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+8517A>C (CYP51A1) | ENSP00000510368.1:n.1351+8517A>C | |
| ENST00000356239.8:c.11580T>G (AKAP9) MANE Select | ENSP00000348573.3:p.Gly3860= | |
| ENST00000359028.7:c.11652T>G (AKAP9) | ENSP00000351922.4:p.Gly3884= | |
| ENST00000394534.7:c.4572T>G (AKAP9) | ENSP00000378042.3:p.Gly1524= | |
| ENST00000486313.2:c.819-1595T>G (AKAP9) | ENSP00000505389.1:n.819-1595T>G | |
| ENST00000487692.2:n.3339T>G (AKAP9) | ||
| ENST00000491695.2:c.6225T>G (AKAP9) | ENSP00000494626.2:p.Gly2075= | |
| ENST00000679448.1:c.*2460T>G (AKAP9) | ENSP00000505889.1:n.*2460T>G | |
| ENST00000679457.1:c.*148T>G (AKAP9) | ENSP00000505450.1:n.*148T>G | |
| ENST00000679474.1:n.12764T>G (AKAP9) | ||
| ENST00000679521.1:c.11526T>G (AKAP9) | ENSP00000505456.1:p.Gly3842= | |
| ENST00000679821.1:c.11322T>G (AKAP9) | ENSP00000506040.1:p.Gly3774= | |
| ENST00000680047.1:n.13250T>G (AKAP9) | ||
| ENST00000680072.1:c.11403T>G (AKAP9) | ENSP00000506581.1:p.Gly3801= | |
| ENST00000680181.1:c.11487T>G (AKAP9) | ENSP00000505548.1:p.Gly3829= | |
| ENST00000680365.1:c.5219T>G (AKAP9) | ENSP00000506019.1:n.5219T>G | |
| ENST00000680513.1:c.11439T>G (AKAP9) | ENSP00000505284.1:p.Gly3813= | |
| ENST00000680534.1:c.11619T>G (AKAP9) | ENSP00000506674.1:p.Gly3873= | |
| ENST00000680766.1:c.11556T>G (AKAP9) | ENSP00000505204.1:p.Gly3852= | |
| ENST00000680952.1:c.11340T>G (AKAP9) | ENSP00000506407.1:p.Gly3780= | |
| ENST00000681216.1:c.5340T>G (AKAP9) | ENSP00000505551.1:n.5340T>G | |
| ENST00000681412.1:c.11580T>G (AKAP9) | ENSP00000506486.1:p.Gly3860= | |
| ENST00000681722.1:c.11556T>G (AKAP9) | ENSP00000506566.1:p.Gly3852= | |
| ENST00000356239.7:c.11580T>G (AKAP9) | ENSP00000348573.3:p.Gly3860= | |
| ENST00000359028.6:c.11589T>G (AKAP9) | ENSP00000351922.3:p.Gly3863= | |
| ENST00000394534.6:c.5118T>G (AKAP9) | ENSP00000378042.2:p.Gly1706= | |
| ENST00000486313.1:n.239-1595T>G (AKAP9) | ||
| ENST00000487258.5:n.3330T>G (AKAP9) | ||
| NM_005751.4:c.11580T>G , LRG_331t1:c.11580T>G (AKAP9) | NP_005742.4:p.Gly3860= | |
| NM_147185.2:c.11556T>G (AKAP9) | NP_671714.1:p.Gly3852= | |
| XM_006715827.1:c.11439T>G (AKAP9) | XP_006715890.1:p.Gly3813= | |
| XM_011515709.1:c.11727T>G (AKAP9) | XP_011514011.1:p.Gly3909= | |
| XM_011515710.1:c.11751T>G (AKAP9) | XP_011514012.1:p.Gly3917= | |
| XM_011515711.1:c.11691T>G (AKAP9) | XP_011514013.1:p.Gly3897= | |
| XM_011515712.1:c.11688T>G (AKAP9) | XP_011514014.1:p.Gly3896= | |
| XM_011515713.1:c.11673T>G (AKAP9) | XP_011514015.1:p.Gly3891= | |
| XM_011515714.1:c.11712T>G (AKAP9) | XP_011514016.1:p.Gly3904= | |
| XM_011515716.1:c.11631T>G (AKAP9) | XP_011514018.1:p.Gly3877= | |
| XM_011515717.1:c.11586T>G (AKAP9) | XP_011514019.1:p.Gly3862= | |
| XM_011515718.1:c.11616T>G (AKAP9) | XP_011514020.1:p.Gly3872= | |
| XM_011515719.1:c.11592T>G (AKAP9) | XP_011514021.1:p.Gly3864= | |
| XM_011515721.1:c.6240T>G (AKAP9) | XP_011514023.1:p.Gly2080= | |
| XM_011515722.1:c.6201T>G (AKAP9) | XP_011514024.1:p.Gly2067= | |
| XM_017011642.2:c.11715T>G (AKAP9) | XP_016867131.1:p.Gly3905= | |
| XM_017011643.2:c.11676T>G (AKAP9) | XP_016867132.1:p.Gly3892= | |
| XM_017011644.2:c.11715T>G (AKAP9) | XP_016867133.1:p.Gly3905= | |
| XM_017011645.2:c.11661T>G (AKAP9) | XP_016867134.1:p.Gly3887= | |
| XM_017011646.2:c.11676T>G (AKAP9) | XP_016867135.1:p.Gly3892= | |
| XM_017011647.2:c.11622T>G (AKAP9) | XP_016867136.1:p.Gly3874= | |
| XM_017011648.2:c.11619T>G (AKAP9) | XP_016867137.1:p.Gly3873= | |
| XM_017011649.2:c.11652T>G (AKAP9) | XP_016867138.1:p.Gly3884= | |
| XM_017011650.2:c.11580T>G (AKAP9) | XP_016867139.1:p.Gly3860= | |
| XM_017011651.2:c.11574T>G (AKAP9) | XP_016867140.1:p.Gly3858= | |
| XM_017011652.2:c.11526T>G (AKAP9) | XP_016867141.1:p.Gly3842= | |
| XM_017011653.2:c.11487T>G (AKAP9) | XP_016867142.1:p.Gly3829= | |
| XM_017011654.2:c.11439T>G (AKAP9) | XP_016867143.1:p.Gly3813= | |
| XM_017011655.2:c.11343T>G (AKAP9) | XP_016867144.1:p.Gly3781= | |
| XM_017011656.2:c.11343T>G (AKAP9) | XP_016867145.1:p.Gly3781= | |
| XM_017011657.2:c.7380T>G (AKAP9) | XP_016867146.1:p.Gly2460= | |
| XM_017011658.2:c.6264T>G (AKAP9) | XP_016867147.1:p.Gly2088= | |
| XM_017011659.2:c.6225T>G (AKAP9) | XP_016867148.1:p.Gly2075= | |
| XM_017011660.2:c.6225T>G (AKAP9) | XP_016867149.1:p.Gly2075= | |
| XM_024446631.1:c.11478T>G (AKAP9) | XP_024302399.1:p.Gly3826= | |
| NM_147185.3:c.11556T>G (AKAP9) | NP_671714.1:p.Gly3852= | |
| NM_001379277.1:c.6225T>G (AKAP9) | NP_001366206.1:p.Gly2075= | |
| NM_005751.5:c.11580T>G (AKAP9) MANE Select | NP_005742.4:p.Gly3860= |