Linked Data
ClinVar Variation Id:
190514
dbSNP Id:
rs139046510
ExAC:
7:91727479 A / T
gnomAD v2:
7-91727479-A-T
gnomAD v3:
7-92098165-A-T
gnomAD v4:
7-92098165-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92098165A>T , CM000669.2:g.92098165A>T | GRCh38 |
| NC_000007.13:g.91727479A>T , CM000669.1:g.91727479A>T | GRCh37 |
| NC_000007.12:g.91565415A>T | NCBI36 |
| NG_011623.1:g.162291A>T , LRG_331:g.162291A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-12563T>A (CYP51A1) | ENSP00000510368.1:n.1352-12563T>A | |
| ENST00000356239.8:c.10664A>T (AKAP9) MANE Select | ENSP00000348573.3:p.Asp3555Val | |
| ENST00000359028.7:c.10736A>T (AKAP9) | ENSP00000351922.4:p.Asp3579Val | |
| ENST00000394534.7:c.3656A>T (AKAP9) | ENSP00000378042.3:p.Asp1219Val | |
| ENST00000463118.2:n.12A>T (AKAP9) | ||
| ENST00000486313.2:c.152A>T (AKAP9) | ENSP00000505389.1:p.Asp51Val | |
| ENST00000487692.2:n.2742A>T (AKAP9) | ||
| ENST00000491695.2:c.5309A>T (AKAP9) | ENSP00000494626.2:p.Asp1770Val | |
| ENST00000679448.1:c.*1544A>T (AKAP9) | ENSP00000505889.1:n.*1544A>T | |
| ENST00000679457.1:c.10640A>T (AKAP9) | ENSP00000505450.1:p.Asp3547Val | |
| ENST00000679474.1:n.10862A>T (AKAP9) | ||
| ENST00000679521.1:c.10610A>T (AKAP9) | ENSP00000505456.1:p.Asp3537Val | |
| ENST00000679821.1:c.10406A>T (AKAP9) | ENSP00000506040.1:p.Asp3469Val | |
| ENST00000680047.1:n.10862A>T (AKAP9) | ||
| ENST00000680072.1:c.10487A>T (AKAP9) | ENSP00000506581.1:p.Asp3496Val | |
| ENST00000680181.1:c.10571A>T (AKAP9) | ENSP00000505548.1:p.Asp3524Val | |
| ENST00000680365.1:c.4303A>T (AKAP9) | ENSP00000506019.1:n.4303A>T | |
| ENST00000680513.1:c.10523A>T (AKAP9) | ENSP00000505284.1:p.Asp3508Val | |
| ENST00000680534.1:c.10703A>T (AKAP9) | ENSP00000506674.1:p.Asp3568Val | |
| ENST00000680766.1:c.10640A>T (AKAP9) | ENSP00000505204.1:p.Asp3547Val | |
| ENST00000680952.1:c.10640A>T (AKAP9) | ENSP00000506407.1:p.Asp3547Val | |
| ENST00000681216.1:c.4424A>T (AKAP9) | ENSP00000505551.1:n.4424A>T | |
| ENST00000681412.1:c.10664A>T (AKAP9) | ENSP00000506486.1:p.Asp3555Val | |
| ENST00000681722.1:c.10640A>T (AKAP9) | ENSP00000506566.1:p.Asp3547Val | |
| ENST00000356239.7:c.10664A>T (AKAP9) | ENSP00000348573.3:p.Asp3555Val | |
| ENST00000359028.6:c.10673A>T (AKAP9) | ENSP00000351922.3:p.Asp3558Val | |
| ENST00000394534.6:c.4202A>T (AKAP9) | ENSP00000378042.2:p.Asp1401Val | |
| ENST00000463118.1:n.12A>T (AKAP9) | ||
| ENST00000487258.5:n.2414A>T (AKAP9) | ||
| ENST00000487692.1:n.464A>T (AKAP9) | ||
| NM_005751.4:c.10664A>T , LRG_331t1:c.10664A>T (AKAP9) | NP_005742.4:p.Asp3555Val | |
| NM_147185.2:c.10640A>T (AKAP9) | NP_671714.1:p.Asp3547Val | |
| XM_006715827.1:c.10523A>T (AKAP9) | XP_006715890.1:p.Asp3508Val | |
| XM_011515709.1:c.10811A>T (AKAP9) | XP_011514011.1:p.Asp3604Val | |
| XM_011515710.1:c.10835A>T (AKAP9) | XP_011514012.1:p.Asp3612Val | |
| XM_011515711.1:c.10775A>T (AKAP9) | XP_011514013.1:p.Asp3592Val | |
| XM_011515712.1:c.10772A>T (AKAP9) | XP_011514014.1:p.Asp3591Val | |
| XM_011515713.1:c.10757A>T (AKAP9) | XP_011514015.1:p.Asp3586Val | |
| XM_011515714.1:c.10796A>T (AKAP9) | XP_011514016.1:p.Asp3599Val | |
| XM_011515716.1:c.10715A>T (AKAP9) | XP_011514018.1:p.Asp3572Val | |
| XM_011515717.1:c.10670A>T (AKAP9) | XP_011514019.1:p.Asp3557Val | |
| XM_011515718.1:c.10700A>T (AKAP9) | XP_011514020.1:p.Asp3567Val | |
| XM_011515719.1:c.10676A>T (AKAP9) | XP_011514021.1:p.Asp3559Val | |
| XM_011515721.1:c.5324A>T (AKAP9) | XP_011514023.1:p.Asp1775Val | |
| XM_011515722.1:c.5285A>T (AKAP9) | XP_011514024.1:p.Asp1762Val | |
| XM_017011642.2:c.10799A>T (AKAP9) | XP_016867131.1:p.Asp3600Val | |
| XM_017011643.2:c.10760A>T (AKAP9) | XP_016867132.1:p.Asp3587Val | |
| XM_017011644.2:c.10799A>T (AKAP9) | XP_016867133.1:p.Asp3600Val | |
| XM_017011645.2:c.10745A>T (AKAP9) | XP_016867134.1:p.Asp3582Val | |
| XM_017011646.2:c.10760A>T (AKAP9) | XP_016867135.1:p.Asp3587Val | |
| XM_017011647.2:c.10706A>T (AKAP9) | XP_016867136.1:p.Asp3569Val | |
| XM_017011648.2:c.10703A>T (AKAP9) | XP_016867137.1:p.Asp3568Val | |
| XM_017011649.2:c.10736A>T (AKAP9) | XP_016867138.1:p.Asp3579Val | |
| XM_017011650.2:c.10664A>T (AKAP9) | XP_016867139.1:p.Asp3555Val | |
| XM_017011651.2:c.10658A>T (AKAP9) | XP_016867140.1:p.Asp3553Val | |
| XM_017011652.2:c.10610A>T (AKAP9) | XP_016867141.1:p.Asp3537Val | |
| XM_017011653.2:c.10571A>T (AKAP9) | XP_016867142.1:p.Asp3524Val | |
| XM_017011654.2:c.10523A>T (AKAP9) | XP_016867143.1:p.Asp3508Val | |
| XM_017011655.2:c.10427A>T (AKAP9) | XP_016867144.1:p.Asp3476Val | |
| XM_017011656.2:c.10427A>T (AKAP9) | XP_016867145.1:p.Asp3476Val | |
| XM_017011657.2:c.6464A>T (AKAP9) | XP_016867146.1:p.Asp2155Val | |
| XM_017011658.2:c.5348A>T (AKAP9) | XP_016867147.1:p.Asp1783Val | |
| XM_017011659.2:c.5309A>T (AKAP9) | XP_016867148.1:p.Asp1770Val | |
| XM_017011660.2:c.5309A>T (AKAP9) | XP_016867149.1:p.Asp1770Val | |
| XM_024446631.1:c.10562A>T (AKAP9) | XP_024302399.1:p.Asp3521Val | |
| NM_147185.3:c.10640A>T (AKAP9) | NP_671714.1:p.Asp3547Val | |
| NM_001379277.1:c.5309A>T (AKAP9) | NP_001366206.1:p.Asp1770Val | |
| NM_005751.5:c.10664A>T (AKAP9) MANE Select | NP_005742.4:p.Asp3555Val |