Linked Data
ClinVar Variation Id:
190498
dbSNP Id:
rs145675748
ExAC:
7:91736709 T / C
gnomAD v2:
7-91736709-T-C
gnomAD v3:
7-92107395-T-C
gnomAD v4:
7-92107395-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92107395T>C , CM000669.2:g.92107395T>C | GRCh38 |
| NC_000007.13:g.91736709T>C , CM000669.1:g.91736709T>C | GRCh37 |
| NC_000007.12:g.91574645T>C | NCBI36 |
| NG_011623.1:g.171521T>C , LRG_331:g.171521T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+9649A>G (CYP51A1) | ENSP00000510368.1:n.1351+9649A>G | |
| ENST00000356239.8:c.11519T>C (AKAP9) MANE Select | ENSP00000348573.3:p.Ile3840Thr | |
| ENST00000359028.7:c.11591T>C (AKAP9) | ENSP00000351922.4:p.Ile3864Thr | |
| ENST00000394534.7:c.4511T>C (AKAP9) | ENSP00000378042.3:p.Ile1504Thr | |
| ENST00000463118.2:n.774T>C (AKAP9) | ||
| ENST00000486313.2:c.819-2727T>C (AKAP9) | ENSP00000505389.1:n.819-2727T>C | |
| ENST00000487692.2:n.3278T>C (AKAP9) | ||
| ENST00000491695.2:c.6164T>C (AKAP9) | ENSP00000494626.2:p.Ile2055Thr | |
| ENST00000679448.1:c.*2399T>C (AKAP9) | ENSP00000505889.1:n.*2399T>C | |
| ENST00000679457.1:c.*87T>C (AKAP9) | ENSP00000505450.1:n.*87T>C | |
| ENST00000679474.1:n.12703T>C (AKAP9) | ||
| ENST00000679521.1:c.11465T>C (AKAP9) | ENSP00000505456.1:p.Ile3822Thr | |
| ENST00000679821.1:c.11261T>C (AKAP9) | ENSP00000506040.1:p.Ile3754Thr | |
| ENST00000680047.1:n.13189T>C (AKAP9) | ||
| ENST00000680072.1:c.11342T>C (AKAP9) | ENSP00000506581.1:p.Ile3781Thr | |
| ENST00000680181.1:c.11426T>C (AKAP9) | ENSP00000505548.1:p.Ile3809Thr | |
| ENST00000680365.1:c.5158T>C (AKAP9) | ENSP00000506019.1:n.5158T>C | |
| ENST00000680513.1:c.11378T>C (AKAP9) | ENSP00000505284.1:p.Ile3793Thr | |
| ENST00000680534.1:c.11558T>C (AKAP9) | ENSP00000506674.1:p.Ile3853Thr | |
| ENST00000680766.1:c.11495T>C (AKAP9) | ENSP00000505204.1:p.Ile3832Thr | |
| ENST00000680952.1:c.11307-1099T>C (AKAP9) | ENSP00000506407.1:n.11307-1099T>C | |
| ENST00000681216.1:c.5279T>C (AKAP9) | ENSP00000505551.1:n.5279T>C | |
| ENST00000681412.1:c.11519T>C (AKAP9) | ENSP00000506486.1:p.Ile3840Thr | |
| ENST00000681722.1:c.11495T>C (AKAP9) | ENSP00000506566.1:p.Ile3832Thr | |
| ENST00000356239.7:c.11519T>C (AKAP9) | ENSP00000348573.3:p.Ile3840Thr | |
| ENST00000359028.6:c.11528T>C (AKAP9) | ENSP00000351922.3:p.Ile3843Thr | |
| ENST00000394534.6:c.5057T>C (AKAP9) | ENSP00000378042.2:p.Ile1686Thr | |
| ENST00000463118.1:n.774T>C (AKAP9) | ||
| ENST00000486313.1:n.239-2727T>C (AKAP9) | ||
| ENST00000487258.5:n.3269T>C (AKAP9) | ||
| ENST00000493976.1:n.190T>C (AKAP9) | ||
| NM_005751.4:c.11519T>C , LRG_331t1:c.11519T>C (AKAP9) | NP_005742.4:p.Ile3840Thr | |
| NM_147185.2:c.11495T>C (AKAP9) | NP_671714.1:p.Ile3832Thr | |
| XM_006715827.1:c.11378T>C (AKAP9) | XP_006715890.1:p.Ile3793Thr | |
| XM_011515709.1:c.11666T>C (AKAP9) | XP_011514011.1:p.Ile3889Thr | |
| XM_011515710.1:c.11690T>C (AKAP9) | XP_011514012.1:p.Ile3897Thr | |
| XM_011515711.1:c.11630T>C (AKAP9) | XP_011514013.1:p.Ile3877Thr | |
| XM_011515712.1:c.11627T>C (AKAP9) | XP_011514014.1:p.Ile3876Thr | |
| XM_011515713.1:c.11612T>C (AKAP9) | XP_011514015.1:p.Ile3871Thr | |
| XM_011515714.1:c.11651T>C (AKAP9) | XP_011514016.1:p.Ile3884Thr | |
| XM_011515716.1:c.11570T>C (AKAP9) | XP_011514018.1:p.Ile3857Thr | |
| XM_011515717.1:c.11525T>C (AKAP9) | XP_011514019.1:p.Ile3842Thr | |
| XM_011515718.1:c.11555T>C (AKAP9) | XP_011514020.1:p.Ile3852Thr | |
| XM_011515719.1:c.11531T>C (AKAP9) | XP_011514021.1:p.Ile3844Thr | |
| XM_011515721.1:c.6179T>C (AKAP9) | XP_011514023.1:p.Ile2060Thr | |
| XM_011515722.1:c.6140T>C (AKAP9) | XP_011514024.1:p.Ile2047Thr | |
| XM_017011642.2:c.11654T>C (AKAP9) | XP_016867131.1:p.Ile3885Thr | |
| XM_017011643.2:c.11615T>C (AKAP9) | XP_016867132.1:p.Ile3872Thr | |
| XM_017011644.2:c.11654T>C (AKAP9) | XP_016867133.1:p.Ile3885Thr | |
| XM_017011645.2:c.11600T>C (AKAP9) | XP_016867134.1:p.Ile3867Thr | |
| XM_017011646.2:c.11615T>C (AKAP9) | XP_016867135.1:p.Ile3872Thr | |
| XM_017011647.2:c.11561T>C (AKAP9) | XP_016867136.1:p.Ile3854Thr | |
| XM_017011648.2:c.11558T>C (AKAP9) | XP_016867137.1:p.Ile3853Thr | |
| XM_017011649.2:c.11591T>C (AKAP9) | XP_016867138.1:p.Ile3864Thr | |
| XM_017011650.2:c.11519T>C (AKAP9) | XP_016867139.1:p.Ile3840Thr | |
| XM_017011651.2:c.11513T>C (AKAP9) | XP_016867140.1:p.Ile3838Thr | |
| XM_017011652.2:c.11465T>C (AKAP9) | XP_016867141.1:p.Ile3822Thr | |
| XM_017011653.2:c.11426T>C (AKAP9) | XP_016867142.1:p.Ile3809Thr | |
| XM_017011654.2:c.11378T>C (AKAP9) | XP_016867143.1:p.Ile3793Thr | |
| XM_017011655.2:c.11282T>C (AKAP9) | XP_016867144.1:p.Ile3761Thr | |
| XM_017011656.2:c.11282T>C (AKAP9) | XP_016867145.1:p.Ile3761Thr | |
| XM_017011657.2:c.7319T>C (AKAP9) | XP_016867146.1:p.Ile2440Thr | |
| XM_017011658.2:c.6203T>C (AKAP9) | XP_016867147.1:p.Ile2068Thr | |
| XM_017011659.2:c.6164T>C (AKAP9) | XP_016867148.1:p.Ile2055Thr | |
| XM_017011660.2:c.6164T>C (AKAP9) | XP_016867149.1:p.Ile2055Thr | |
| XM_024446631.1:c.11417T>C (AKAP9) | XP_024302399.1:p.Ile3806Thr | |
| NM_147185.3:c.11495T>C (AKAP9) | NP_671714.1:p.Ile3832Thr | |
| NM_001379277.1:c.6164T>C (AKAP9) | NP_001366206.1:p.Ile2055Thr | |
| NM_005751.5:c.11519T>C (AKAP9) MANE Select | NP_005742.4:p.Ile3840Thr |