Linked Data
ClinVar Variation Id:
190494
dbSNP Id:
rs751924200
ExAC:
7:91726592 T / C
gnomAD v2:
7-91726592-T-C
gnomAD v3:
7-92097278-T-C
gnomAD v4:
7-92097278-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92097278T>C , CM000669.2:g.92097278T>C | GRCh38 |
| NC_000007.13:g.91726592T>C , CM000669.1:g.91726592T>C | GRCh37 |
| NC_000007.12:g.91564528T>C | NCBI36 |
| NG_011623.1:g.161404T>C , LRG_331:g.161404T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-11676A>G (CYP51A1) | ENSP00000510368.1:n.1352-11676A>G | |
| ENST00000356239.8:c.10319T>C (AKAP9) MANE Select | ENSP00000348573.3:p.Met3440Thr | |
| ENST00000359028.7:c.10391T>C (AKAP9) | ENSP00000351922.4:p.Met3464Thr | |
| ENST00000394534.7:c.3391-308T>C (AKAP9) | ENSP00000378042.3:n.3391-308T>C | |
| ENST00000487692.2:n.2397T>C (AKAP9) | ||
| ENST00000491695.2:c.4964T>C (AKAP9) | ENSP00000494626.2:p.Met1655Thr | |
| ENST00000679448.1:c.*1199T>C (AKAP9) | ENSP00000505889.1:n.*1199T>C | |
| ENST00000679457.1:c.10295T>C (AKAP9) | ENSP00000505450.1:p.Met3432Thr | |
| ENST00000679474.1:n.10517T>C (AKAP9) | ||
| ENST00000679521.1:c.10265T>C (AKAP9) | ENSP00000505456.1:p.Met3422Thr | |
| ENST00000679821.1:c.10061T>C (AKAP9) | ENSP00000506040.1:p.Met3354Thr | |
| ENST00000680047.1:n.10517T>C (AKAP9) | ||
| ENST00000680072.1:c.10142T>C (AKAP9) | ENSP00000506581.1:p.Met3381Thr | |
| ENST00000680181.1:c.10226T>C (AKAP9) | ENSP00000505548.1:p.Met3409Thr | |
| ENST00000680365.1:c.3958T>C (AKAP9) | ENSP00000506019.1:n.3958T>C | |
| ENST00000680513.1:c.10178T>C (AKAP9) | ENSP00000505284.1:p.Met3393Thr | |
| ENST00000680534.1:c.10358T>C (AKAP9) | ENSP00000506674.1:p.Met3453Thr | |
| ENST00000680766.1:c.10295T>C (AKAP9) | ENSP00000505204.1:p.Met3432Thr | |
| ENST00000680952.1:c.10295T>C (AKAP9) | ENSP00000506407.1:p.Met3432Thr | |
| ENST00000681216.1:c.4079T>C (AKAP9) | ENSP00000505551.1:n.4079T>C | |
| ENST00000681412.1:c.10319T>C (AKAP9) | ENSP00000506486.1:p.Met3440Thr | |
| ENST00000681722.1:c.10295T>C (AKAP9) | ENSP00000506566.1:p.Met3432Thr | |
| ENST00000356239.7:c.10319T>C (AKAP9) | ENSP00000348573.3:p.Met3440Thr | |
| ENST00000359028.6:c.10328T>C (AKAP9) | ENSP00000351922.3:p.Met3443Thr | |
| ENST00000394534.6:c.3857T>C (AKAP9) | ENSP00000378042.2:p.Met1286Thr | |
| ENST00000487258.5:n.2069T>C (AKAP9) | ||
| ENST00000487692.1:n.119T>C (AKAP9) | ||
| NM_005751.4:c.10319T>C , LRG_331t1:c.10319T>C (AKAP9) | NP_005742.4:p.Met3440Thr | |
| NM_147185.2:c.10295T>C (AKAP9) | NP_671714.1:p.Met3432Thr | |
| XM_006715827.1:c.10178T>C (AKAP9) | XP_006715890.1:p.Met3393Thr | |
| XM_011515709.1:c.10466T>C (AKAP9) | XP_011514011.1:p.Met3489Thr | |
| XM_011515710.1:c.10490T>C (AKAP9) | XP_011514012.1:p.Met3497Thr | |
| XM_011515711.1:c.10430T>C (AKAP9) | XP_011514013.1:p.Met3477Thr | |
| XM_011515712.1:c.10427T>C (AKAP9) | XP_011514014.1:p.Met3476Thr | |
| XM_011515713.1:c.10412T>C (AKAP9) | XP_011514015.1:p.Met3471Thr | |
| XM_011515714.1:c.10451T>C (AKAP9) | XP_011514016.1:p.Met3484Thr | |
| XM_011515716.1:c.10370T>C (AKAP9) | XP_011514018.1:p.Met3457Thr | |
| XM_011515717.1:c.10325T>C (AKAP9) | XP_011514019.1:p.Met3442Thr | |
| XM_011515718.1:c.10355T>C (AKAP9) | XP_011514020.1:p.Met3452Thr | |
| XM_011515719.1:c.10331T>C (AKAP9) | XP_011514021.1:p.Met3444Thr | |
| XM_011515721.1:c.4979T>C (AKAP9) | XP_011514023.1:p.Met1660Thr | |
| XM_011515722.1:c.4940T>C (AKAP9) | XP_011514024.1:p.Met1647Thr | |
| XM_017011642.2:c.10454T>C (AKAP9) | XP_016867131.1:p.Met3485Thr | |
| XM_017011643.2:c.10415T>C (AKAP9) | XP_016867132.1:p.Met3472Thr | |
| XM_017011644.2:c.10454T>C (AKAP9) | XP_016867133.1:p.Met3485Thr | |
| XM_017011645.2:c.10400T>C (AKAP9) | XP_016867134.1:p.Met3467Thr | |
| XM_017011646.2:c.10415T>C (AKAP9) | XP_016867135.1:p.Met3472Thr | |
| XM_017011647.2:c.10361T>C (AKAP9) | XP_016867136.1:p.Met3454Thr | |
| XM_017011648.2:c.10358T>C (AKAP9) | XP_016867137.1:p.Met3453Thr | |
| XM_017011649.2:c.10391T>C (AKAP9) | XP_016867138.1:p.Met3464Thr | |
| XM_017011650.2:c.10319T>C (AKAP9) | XP_016867139.1:p.Met3440Thr | |
| XM_017011651.2:c.10313T>C (AKAP9) | XP_016867140.1:p.Met3438Thr | |
| XM_017011652.2:c.10265T>C (AKAP9) | XP_016867141.1:p.Met3422Thr | |
| XM_017011653.2:c.10226T>C (AKAP9) | XP_016867142.1:p.Met3409Thr | |
| XM_017011654.2:c.10178T>C (AKAP9) | XP_016867143.1:p.Met3393Thr | |
| XM_017011655.2:c.10082T>C (AKAP9) | XP_016867144.1:p.Met3361Thr | |
| XM_017011656.2:c.10082T>C (AKAP9) | XP_016867145.1:p.Met3361Thr | |
| XM_017011657.2:c.6119T>C (AKAP9) | XP_016867146.1:p.Met2040Thr | |
| XM_017011658.2:c.5003T>C (AKAP9) | XP_016867147.1:p.Met1668Thr | |
| XM_017011659.2:c.4964T>C (AKAP9) | XP_016867148.1:p.Met1655Thr | |
| XM_017011660.2:c.4964T>C (AKAP9) | XP_016867149.1:p.Met1655Thr | |
| XM_024446631.1:c.10217T>C (AKAP9) | XP_024302399.1:p.Met3406Thr | |
| NM_147185.3:c.10295T>C (AKAP9) | NP_671714.1:p.Met3432Thr | |
| NM_001379277.1:c.4964T>C (AKAP9) | NP_001366206.1:p.Met1655Thr | |
| NM_005751.5:c.10319T>C (AKAP9) MANE Select | NP_005742.4:p.Met3440Thr |