Linked Data
ClinVar Variation Id:
360846
dbSNP Id:
rs376961682
ExAC:
7:91726380 T / C
gnomAD v2:
7-91726380-T-C
gnomAD v3:
7-92097066-T-C
gnomAD v4:
7-92097066-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92097066T>C , CM000669.2:g.92097066T>C | GRCh38 |
| NC_000007.13:g.91726380T>C , CM000669.1:g.91726380T>C | GRCh37 |
| NC_000007.12:g.91564316T>C | NCBI36 |
| NG_011623.1:g.161192T>C , LRG_331:g.161192T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-11464A>G (CYP51A1) | ENSP00000510368.1:n.1352-11464A>G | |
| ENST00000356239.8:c.10107T>C (AKAP9) MANE Select | ENSP00000348573.3:p.Tyr3369= | |
| ENST00000359028.7:c.10179T>C (AKAP9) | ENSP00000351922.4:p.Tyr3393= | |
| ENST00000394534.7:c.3390+210T>C (AKAP9) | ENSP00000378042.3:n.3390+210T>C | |
| ENST00000487692.2:n.2185T>C (AKAP9) | ||
| ENST00000491695.2:c.4752T>C (AKAP9) | ENSP00000494626.2:p.Tyr1584= | |
| ENST00000679448.1:c.*987T>C (AKAP9) | ENSP00000505889.1:n.*987T>C | |
| ENST00000679457.1:c.10083T>C (AKAP9) | ENSP00000505450.1:p.Tyr3361= | |
| ENST00000679474.1:n.10305T>C (AKAP9) | ||
| ENST00000679521.1:c.10053T>C (AKAP9) | ENSP00000505456.1:p.Tyr3351= | |
| ENST00000679821.1:c.9849T>C (AKAP9) | ENSP00000506040.1:p.Tyr3283= | |
| ENST00000680047.1:n.10305T>C (AKAP9) | ||
| ENST00000680072.1:c.9930T>C (AKAP9) | ENSP00000506581.1:p.Tyr3310= | |
| ENST00000680181.1:c.10014T>C (AKAP9) | ENSP00000505548.1:p.Tyr3338= | |
| ENST00000680365.1:c.3746T>C (AKAP9) | ENSP00000506019.1:n.3746T>C | |
| ENST00000680513.1:c.9966T>C (AKAP9) | ENSP00000505284.1:p.Tyr3322= | |
| ENST00000680534.1:c.10146T>C (AKAP9) | ENSP00000506674.1:p.Tyr3382= | |
| ENST00000680766.1:c.10083T>C (AKAP9) | ENSP00000505204.1:p.Tyr3361= | |
| ENST00000680952.1:c.10083T>C (AKAP9) | ENSP00000506407.1:p.Tyr3361= | |
| ENST00000681216.1:c.3867T>C (AKAP9) | ENSP00000505551.1:n.3867T>C | |
| ENST00000681412.1:c.10107T>C (AKAP9) | ENSP00000506486.1:p.Tyr3369= | |
| ENST00000681722.1:c.10083T>C (AKAP9) | ENSP00000506566.1:p.Tyr3361= | |
| ENST00000356239.7:c.10107T>C (AKAP9) | ENSP00000348573.3:p.Tyr3369= | |
| ENST00000359028.6:c.10116T>C (AKAP9) | ENSP00000351922.3:p.Tyr3372= | |
| ENST00000394534.6:c.3645T>C (AKAP9) | ENSP00000378042.2:p.Tyr1215= | |
| ENST00000487258.5:n.1857T>C (AKAP9) | ||
| NM_005751.4:c.10107T>C , LRG_331t1:c.10107T>C (AKAP9) | NP_005742.4:p.Tyr3369= | |
| NM_147185.2:c.10083T>C (AKAP9) | NP_671714.1:p.Tyr3361= | |
| XM_006715827.1:c.9966T>C (AKAP9) | XP_006715890.1:p.Tyr3322= | |
| XM_011515709.1:c.10254T>C (AKAP9) | XP_011514011.1:p.Tyr3418= | |
| XM_011515710.1:c.10278T>C (AKAP9) | XP_011514012.1:p.Tyr3426= | |
| XM_011515711.1:c.10218T>C (AKAP9) | XP_011514013.1:p.Tyr3406= | |
| XM_011515712.1:c.10215T>C (AKAP9) | XP_011514014.1:p.Tyr3405= | |
| XM_011515713.1:c.10200T>C (AKAP9) | XP_011514015.1:p.Tyr3400= | |
| XM_011515714.1:c.10239T>C (AKAP9) | XP_011514016.1:p.Tyr3413= | |
| XM_011515716.1:c.10158T>C (AKAP9) | XP_011514018.1:p.Tyr3386= | |
| XM_011515717.1:c.10113T>C (AKAP9) | XP_011514019.1:p.Tyr3371= | |
| XM_011515718.1:c.10143T>C (AKAP9) | XP_011514020.1:p.Tyr3381= | |
| XM_011515719.1:c.10119T>C (AKAP9) | XP_011514021.1:p.Tyr3373= | |
| XM_011515721.1:c.4767T>C (AKAP9) | XP_011514023.1:p.Tyr1589= | |
| XM_011515722.1:c.4728T>C (AKAP9) | XP_011514024.1:p.Tyr1576= | |
| XM_017011642.2:c.10242T>C (AKAP9) | XP_016867131.1:p.Tyr3414= | |
| XM_017011643.2:c.10203T>C (AKAP9) | XP_016867132.1:p.Tyr3401= | |
| XM_017011644.2:c.10242T>C (AKAP9) | XP_016867133.1:p.Tyr3414= | |
| XM_017011645.2:c.10188T>C (AKAP9) | XP_016867134.1:p.Tyr3396= | |
| XM_017011646.2:c.10203T>C (AKAP9) | XP_016867135.1:p.Tyr3401= | |
| XM_017011647.2:c.10149T>C (AKAP9) | XP_016867136.1:p.Tyr3383= | |
| XM_017011648.2:c.10146T>C (AKAP9) | XP_016867137.1:p.Tyr3382= | |
| XM_017011649.2:c.10179T>C (AKAP9) | XP_016867138.1:p.Tyr3393= | |
| XM_017011650.2:c.10107T>C (AKAP9) | XP_016867139.1:p.Tyr3369= | |
| XM_017011651.2:c.10101T>C (AKAP9) | XP_016867140.1:p.Tyr3367= | |
| XM_017011652.2:c.10053T>C (AKAP9) | XP_016867141.1:p.Tyr3351= | |
| XM_017011653.2:c.10014T>C (AKAP9) | XP_016867142.1:p.Tyr3338= | |
| XM_017011654.2:c.9966T>C (AKAP9) | XP_016867143.1:p.Tyr3322= | |
| XM_017011655.2:c.9870T>C (AKAP9) | XP_016867144.1:p.Tyr3290= | |
| XM_017011656.2:c.9870T>C (AKAP9) | XP_016867145.1:p.Tyr3290= | |
| XM_017011657.2:c.5907T>C (AKAP9) | XP_016867146.1:p.Tyr1969= | |
| XM_017011658.2:c.4791T>C (AKAP9) | XP_016867147.1:p.Tyr1597= | |
| XM_017011659.2:c.4752T>C (AKAP9) | XP_016867148.1:p.Tyr1584= | |
| XM_017011660.2:c.4752T>C (AKAP9) | XP_016867149.1:p.Tyr1584= | |
| XM_024446631.1:c.10005T>C (AKAP9) | XP_024302399.1:p.Tyr3335= | |
| NM_147185.3:c.10083T>C (AKAP9) | NP_671714.1:p.Tyr3361= | |
| NM_001379277.1:c.4752T>C (AKAP9) | NP_001366206.1:p.Tyr1584= | |
| NM_005751.5:c.10107T>C (AKAP9) MANE Select | NP_005742.4:p.Tyr3369= |