Linked Data
ClinVar Variation Id:
360856
dbSNP Id:
rs751615449
ExAC:
7:91737810 A / G
gnomAD v2:
7-91737810-A-G
gnomAD v3:
7-92108496-A-G
gnomAD v4:
7-92108496-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92108496A>G , CM000669.2:g.92108496A>G | GRCh38 |
| NC_000007.13:g.91737810A>G , CM000669.1:g.91737810A>G | GRCh37 |
| NC_000007.12:g.91575746A>G | NCBI36 |
| NG_011623.1:g.172622A>G , LRG_331:g.172622A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+8548T>C (CYP51A1) | ENSP00000510368.1:n.1351+8548T>C | |
| ENST00000356239.8:c.11549A>G (AKAP9) MANE Select | ENSP00000348573.3:p.Tyr3850Cys | |
| ENST00000359028.7:c.11621A>G (AKAP9) | ENSP00000351922.4:p.Tyr3874Cys | |
| ENST00000394534.7:c.4541A>G (AKAP9) | ENSP00000378042.3:p.Tyr1514Cys | |
| ENST00000486313.2:c.819-1626A>G (AKAP9) | ENSP00000505389.1:n.819-1626A>G | |
| ENST00000487692.2:n.3308A>G (AKAP9) | ||
| ENST00000491695.2:c.6194A>G (AKAP9) | ENSP00000494626.2:p.Tyr2065Cys | |
| ENST00000679448.1:c.*2429A>G (AKAP9) | ENSP00000505889.1:n.*2429A>G | |
| ENST00000679457.1:c.*117A>G (AKAP9) | ENSP00000505450.1:n.*117A>G | |
| ENST00000679474.1:n.12733A>G (AKAP9) | ||
| ENST00000679521.1:c.11495A>G (AKAP9) | ENSP00000505456.1:p.Tyr3832Cys | |
| ENST00000679821.1:c.11291A>G (AKAP9) | ENSP00000506040.1:p.Tyr3764Cys | |
| ENST00000680047.1:n.13219A>G (AKAP9) | ||
| ENST00000680072.1:c.11372A>G (AKAP9) | ENSP00000506581.1:p.Tyr3791Cys | |
| ENST00000680181.1:c.11456A>G (AKAP9) | ENSP00000505548.1:p.Tyr3819Cys | |
| ENST00000680365.1:c.5188A>G (AKAP9) | ENSP00000506019.1:n.5188A>G | |
| ENST00000680513.1:c.11408A>G (AKAP9) | ENSP00000505284.1:p.Tyr3803Cys | |
| ENST00000680534.1:c.11588A>G (AKAP9) | ENSP00000506674.1:p.Tyr3863Cys | |
| ENST00000680766.1:c.11525A>G (AKAP9) | ENSP00000505204.1:p.Tyr3842Cys | |
| ENST00000680952.1:c.11309A>G (AKAP9) | ENSP00000506407.1:p.Tyr3770Cys | |
| ENST00000681216.1:c.5309A>G (AKAP9) | ENSP00000505551.1:n.5309A>G | |
| ENST00000681412.1:c.11549A>G (AKAP9) | ENSP00000506486.1:p.Tyr3850Cys | |
| ENST00000681722.1:c.11525A>G (AKAP9) | ENSP00000506566.1:p.Tyr3842Cys | |
| ENST00000356239.7:c.11549A>G (AKAP9) | ENSP00000348573.3:p.Tyr3850Cys | |
| ENST00000359028.6:c.11558A>G (AKAP9) | ENSP00000351922.3:p.Tyr3853Cys | |
| ENST00000394534.6:c.5087A>G (AKAP9) | ENSP00000378042.2:p.Tyr1696Cys | |
| ENST00000486313.1:n.239-1626A>G (AKAP9) | ||
| ENST00000487258.5:n.3299A>G (AKAP9) | ||
| NM_005751.4:c.11549A>G , LRG_331t1:c.11549A>G (AKAP9) | NP_005742.4:p.Tyr3850Cys | |
| NM_147185.2:c.11525A>G (AKAP9) | NP_671714.1:p.Tyr3842Cys | |
| XM_006715827.1:c.11408A>G (AKAP9) | XP_006715890.1:p.Tyr3803Cys | |
| XM_011515709.1:c.11696A>G (AKAP9) | XP_011514011.1:p.Tyr3899Cys | |
| XM_011515710.1:c.11720A>G (AKAP9) | XP_011514012.1:p.Tyr3907Cys | |
| XM_011515711.1:c.11660A>G (AKAP9) | XP_011514013.1:p.Tyr3887Cys | |
| XM_011515712.1:c.11657A>G (AKAP9) | XP_011514014.1:p.Tyr3886Cys | |
| XM_011515713.1:c.11642A>G (AKAP9) | XP_011514015.1:p.Tyr3881Cys | |
| XM_011515714.1:c.11681A>G (AKAP9) | XP_011514016.1:p.Tyr3894Cys | |
| XM_011515716.1:c.11600A>G (AKAP9) | XP_011514018.1:p.Tyr3867Cys | |
| XM_011515717.1:c.11555A>G (AKAP9) | XP_011514019.1:p.Tyr3852Cys | |
| XM_011515718.1:c.11585A>G (AKAP9) | XP_011514020.1:p.Tyr3862Cys | |
| XM_011515719.1:c.11561A>G (AKAP9) | XP_011514021.1:p.Tyr3854Cys | |
| XM_011515721.1:c.6209A>G (AKAP9) | XP_011514023.1:p.Tyr2070Cys | |
| XM_011515722.1:c.6170A>G (AKAP9) | XP_011514024.1:p.Tyr2057Cys | |
| XM_017011642.2:c.11684A>G (AKAP9) | XP_016867131.1:p.Tyr3895Cys | |
| XM_017011643.2:c.11645A>G (AKAP9) | XP_016867132.1:p.Tyr3882Cys | |
| XM_017011644.2:c.11684A>G (AKAP9) | XP_016867133.1:p.Tyr3895Cys | |
| XM_017011645.2:c.11630A>G (AKAP9) | XP_016867134.1:p.Tyr3877Cys | |
| XM_017011646.2:c.11645A>G (AKAP9) | XP_016867135.1:p.Tyr3882Cys | |
| XM_017011647.2:c.11591A>G (AKAP9) | XP_016867136.1:p.Tyr3864Cys | |
| XM_017011648.2:c.11588A>G (AKAP9) | XP_016867137.1:p.Tyr3863Cys | |
| XM_017011649.2:c.11621A>G (AKAP9) | XP_016867138.1:p.Tyr3874Cys | |
| XM_017011650.2:c.11549A>G (AKAP9) | XP_016867139.1:p.Tyr3850Cys | |
| XM_017011651.2:c.11543A>G (AKAP9) | XP_016867140.1:p.Tyr3848Cys | |
| XM_017011652.2:c.11495A>G (AKAP9) | XP_016867141.1:p.Tyr3832Cys | |
| XM_017011653.2:c.11456A>G (AKAP9) | XP_016867142.1:p.Tyr3819Cys | |
| XM_017011654.2:c.11408A>G (AKAP9) | XP_016867143.1:p.Tyr3803Cys | |
| XM_017011655.2:c.11312A>G (AKAP9) | XP_016867144.1:p.Tyr3771Cys | |
| XM_017011656.2:c.11312A>G (AKAP9) | XP_016867145.1:p.Tyr3771Cys | |
| XM_017011657.2:c.7349A>G (AKAP9) | XP_016867146.1:p.Tyr2450Cys | |
| XM_017011658.2:c.6233A>G (AKAP9) | XP_016867147.1:p.Tyr2078Cys | |
| XM_017011659.2:c.6194A>G (AKAP9) | XP_016867148.1:p.Tyr2065Cys | |
| XM_017011660.2:c.6194A>G (AKAP9) | XP_016867149.1:p.Tyr2065Cys | |
| XM_024446631.1:c.11447A>G (AKAP9) | XP_024302399.1:p.Tyr3816Cys | |
| NM_147185.3:c.11525A>G (AKAP9) | NP_671714.1:p.Tyr3842Cys | |
| NM_001379277.1:c.6194A>G (AKAP9) | NP_001366206.1:p.Tyr2065Cys | |
| NM_005751.5:c.11549A>G (AKAP9) MANE Select | NP_005742.4:p.Tyr3850Cys |