Linked Data
ClinVar Variation Id:
191397
dbSNP Id:
rs750007670
ExAC:
7:91727024 G / A
gnomAD v2:
7-91727024-G-A
gnomAD v3:
7-92097710-G-A
gnomAD v4:
7-92097710-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92097710G>A , CM000669.2:g.92097710G>A | GRCh38 |
| NC_000007.13:g.91727024G>A , CM000669.1:g.91727024G>A | GRCh37 |
| NC_000007.12:g.91564960G>A | NCBI36 |
| NG_011623.1:g.161836G>A , LRG_331:g.161836G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-12108C>T (CYP51A1) | ENSP00000510368.1:n.1352-12108C>T | |
| ENST00000356239.8:c.10523G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Cys3508Tyr | |
| ENST00000359028.7:c.10595G>A (AKAP9) | ENSP00000351922.4:p.Cys3532Tyr | |
| ENST00000394534.7:c.3515G>A (AKAP9) | ENSP00000378042.3:p.Cys1172Tyr | |
| ENST00000486313.2:c.11G>A (AKAP9) | ENSP00000505389.1:p.Cys4Tyr | |
| ENST00000487692.2:n.2601G>A (AKAP9) | ||
| ENST00000491695.2:c.5168G>A (AKAP9) | ENSP00000494626.2:p.Cys1723Tyr | |
| ENST00000679448.1:c.*1403G>A (AKAP9) | ENSP00000505889.1:n.*1403G>A | |
| ENST00000679457.1:c.10499G>A (AKAP9) | ENSP00000505450.1:p.Cys3500Tyr | |
| ENST00000679474.1:n.10721G>A (AKAP9) | ||
| ENST00000679521.1:c.10469G>A (AKAP9) | ENSP00000505456.1:p.Cys3490Tyr | |
| ENST00000679821.1:c.10265G>A (AKAP9) | ENSP00000506040.1:p.Cys3422Tyr | |
| ENST00000680047.1:n.10721G>A (AKAP9) | ||
| ENST00000680072.1:c.10346G>A (AKAP9) | ENSP00000506581.1:p.Cys3449Tyr | |
| ENST00000680181.1:c.10430G>A (AKAP9) | ENSP00000505548.1:p.Cys3477Tyr | |
| ENST00000680365.1:c.4162G>A (AKAP9) | ENSP00000506019.1:n.4162G>A | |
| ENST00000680513.1:c.10382G>A (AKAP9) | ENSP00000505284.1:p.Cys3461Tyr | |
| ENST00000680534.1:c.10562G>A (AKAP9) | ENSP00000506674.1:p.Cys3521Tyr | |
| ENST00000680766.1:c.10499G>A (AKAP9) | ENSP00000505204.1:p.Cys3500Tyr | |
| ENST00000680952.1:c.10499G>A (AKAP9) | ENSP00000506407.1:p.Cys3500Tyr | |
| ENST00000681216.1:c.4283G>A (AKAP9) | ENSP00000505551.1:n.4283G>A | |
| ENST00000681412.1:c.10523G>A (AKAP9) | ENSP00000506486.1:p.Cys3508Tyr | |
| ENST00000681722.1:c.10499G>A (AKAP9) | ENSP00000506566.1:p.Cys3500Tyr | |
| ENST00000356239.7:c.10523G>A (AKAP9) | ENSP00000348573.3:p.Cys3508Tyr | |
| ENST00000359028.6:c.10532G>A (AKAP9) | ENSP00000351922.3:p.Cys3511Tyr | |
| ENST00000394534.6:c.4061G>A (AKAP9) | ENSP00000378042.2:p.Cys1354Tyr | |
| ENST00000487258.5:n.2273G>A (AKAP9) | ||
| ENST00000487692.1:n.323G>A (AKAP9) | ||
| NM_005751.4:c.10523G>A , LRG_331t1:c.10523G>A (AKAP9) | NP_005742.4:p.Cys3508Tyr | |
| NM_147185.2:c.10499G>A (AKAP9) | NP_671714.1:p.Cys3500Tyr | |
| XM_006715827.1:c.10382G>A (AKAP9) | XP_006715890.1:p.Cys3461Tyr | |
| XM_011515709.1:c.10670G>A (AKAP9) | XP_011514011.1:p.Cys3557Tyr | |
| XM_011515710.1:c.10694G>A (AKAP9) | XP_011514012.1:p.Cys3565Tyr | |
| XM_011515711.1:c.10634G>A (AKAP9) | XP_011514013.1:p.Cys3545Tyr | |
| XM_011515712.1:c.10631G>A (AKAP9) | XP_011514014.1:p.Cys3544Tyr | |
| XM_011515713.1:c.10616G>A (AKAP9) | XP_011514015.1:p.Cys3539Tyr | |
| XM_011515714.1:c.10655G>A (AKAP9) | XP_011514016.1:p.Cys3552Tyr | |
| XM_011515716.1:c.10574G>A (AKAP9) | XP_011514018.1:p.Cys3525Tyr | |
| XM_011515717.1:c.10529G>A (AKAP9) | XP_011514019.1:p.Cys3510Tyr | |
| XM_011515718.1:c.10559G>A (AKAP9) | XP_011514020.1:p.Cys3520Tyr | |
| XM_011515719.1:c.10535G>A (AKAP9) | XP_011514021.1:p.Cys3512Tyr | |
| XM_011515721.1:c.5183G>A (AKAP9) | XP_011514023.1:p.Cys1728Tyr | |
| XM_011515722.1:c.5144G>A (AKAP9) | XP_011514024.1:p.Cys1715Tyr | |
| XM_017011642.2:c.10658G>A (AKAP9) | XP_016867131.1:p.Cys3553Tyr | |
| XM_017011643.2:c.10619G>A (AKAP9) | XP_016867132.1:p.Cys3540Tyr | |
| XM_017011644.2:c.10658G>A (AKAP9) | XP_016867133.1:p.Cys3553Tyr | |
| XM_017011645.2:c.10604G>A (AKAP9) | XP_016867134.1:p.Cys3535Tyr | |
| XM_017011646.2:c.10619G>A (AKAP9) | XP_016867135.1:p.Cys3540Tyr | |
| XM_017011647.2:c.10565G>A (AKAP9) | XP_016867136.1:p.Cys3522Tyr | |
| XM_017011648.2:c.10562G>A (AKAP9) | XP_016867137.1:p.Cys3521Tyr | |
| XM_017011649.2:c.10595G>A (AKAP9) | XP_016867138.1:p.Cys3532Tyr | |
| XM_017011650.2:c.10523G>A (AKAP9) | XP_016867139.1:p.Cys3508Tyr | |
| XM_017011651.2:c.10517G>A (AKAP9) | XP_016867140.1:p.Cys3506Tyr | |
| XM_017011652.2:c.10469G>A (AKAP9) | XP_016867141.1:p.Cys3490Tyr | |
| XM_017011653.2:c.10430G>A (AKAP9) | XP_016867142.1:p.Cys3477Tyr | |
| XM_017011654.2:c.10382G>A (AKAP9) | XP_016867143.1:p.Cys3461Tyr | |
| XM_017011655.2:c.10286G>A (AKAP9) | XP_016867144.1:p.Cys3429Tyr | |
| XM_017011656.2:c.10286G>A (AKAP9) | XP_016867145.1:p.Cys3429Tyr | |
| XM_017011657.2:c.6323G>A (AKAP9) | XP_016867146.1:p.Cys2108Tyr | |
| XM_017011658.2:c.5207G>A (AKAP9) | XP_016867147.1:p.Cys1736Tyr | |
| XM_017011659.2:c.5168G>A (AKAP9) | XP_016867148.1:p.Cys1723Tyr | |
| XM_017011660.2:c.5168G>A (AKAP9) | XP_016867149.1:p.Cys1723Tyr | |
| XM_024446631.1:c.10421G>A (AKAP9) | XP_024302399.1:p.Cys3474Tyr | |
| NM_147185.3:c.10499G>A (AKAP9) | NP_671714.1:p.Cys3500Tyr | |
| NM_001379277.1:c.5168G>A (AKAP9) | NP_001366206.1:p.Cys1723Tyr | |
| NM_005751.5:c.10523G>A (AKAP9) MANE Select | NP_005742.4:p.Cys3508Tyr |