Linked Data
ClinVar Variation Id:
191394
dbSNP Id:
rs201958512
ExAC:
7:91714870 A / G
gnomAD v2:
7-91714870-A-G
gnomAD v3:
7-92085556-A-G
gnomAD v4:
7-92085556-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92085556A>G , CM000669.2:g.92085556A>G | GRCh38 |
| NC_000007.13:g.91714870A>G , CM000669.1:g.91714870A>G | GRCh37 |
| NC_000007.12:g.91552806A>G | NCBI36 |
| NG_011623.1:g.149682A>G , LRG_331:g.149682A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.*21T>C (CYP51A1) | ENSP00000510368.1:n.*21T>C | |
| ENST00000356239.8:c.8894A>G (AKAP9) MANE Select | ENSP00000348573.3:p.Tyr2965Cys | |
| ENST00000359028.7:c.8966A>G (AKAP9) | ENSP00000351922.4:p.Tyr2989Cys | |
| ENST00000394534.7:c.2387A>G (AKAP9) | ENSP00000378042.3:p.Tyr796Cys | |
| ENST00000435423.2:n.734A>G (AKAP9) | ||
| ENST00000491695.2:c.3539A>G (AKAP9) | ENSP00000494626.2:p.Tyr1180Cys | |
| ENST00000679448.1:c.8870A>G (AKAP9) | ENSP00000505889.1:p.Tyr2957Cys | |
| ENST00000679457.1:c.8870A>G (AKAP9) | ENSP00000505450.1:p.Tyr2957Cys | |
| ENST00000679474.1:n.9092A>G (AKAP9) | ||
| ENST00000679521.1:c.8840A>G (AKAP9) | ENSP00000505456.1:p.Tyr2947Cys | |
| ENST00000679722.1:n.9116A>G (AKAP9) | ||
| ENST00000679821.1:c.8636A>G (AKAP9) | ENSP00000506040.1:p.Tyr2879Cys | |
| ENST00000680047.1:n.9092A>G (AKAP9) | ||
| ENST00000680072.1:c.8717A>G (AKAP9) | ENSP00000506581.1:p.Tyr2906Cys | |
| ENST00000680181.1:c.8801A>G (AKAP9) | ENSP00000505548.1:p.Tyr2934Cys | |
| ENST00000680365.1:c.2387A>G (AKAP9) | ENSP00000506019.1:p.Tyr796Cys | |
| ENST00000680513.1:c.8753A>G (AKAP9) | ENSP00000505284.1:p.Tyr2918Cys | |
| ENST00000680534.1:c.8933A>G (AKAP9) | ENSP00000506674.1:p.Tyr2978Cys | |
| ENST00000680766.1:c.8870A>G (AKAP9) | ENSP00000505204.1:p.Tyr2957Cys | |
| ENST00000680952.1:c.8870A>G (AKAP9) | ENSP00000506407.1:p.Tyr2957Cys | |
| ENST00000681216.1:c.2231A>G (AKAP9) | ENSP00000505551.1:p.Tyr744Cys | |
| ENST00000681412.1:c.8894A>G (AKAP9) | ENSP00000506486.1:p.Tyr2965Cys | |
| ENST00000681722.1:c.8870A>G (AKAP9) | ENSP00000506566.1:p.Tyr2957Cys | |
| ENST00000356239.7:c.8894A>G (AKAP9) | ENSP00000348573.3:p.Tyr2965Cys | |
| ENST00000358100.6:c.8753A>G (AKAP9) | ENSP00000350813.3:p.Tyr2918Cys | |
| ENST00000359028.6:c.8903A>G (AKAP9) | ENSP00000351922.3:p.Tyr2968Cys | |
| ENST00000394534.6:c.2432A>G (AKAP9) | ENSP00000378042.2:p.Tyr811Cys | |
| ENST00000435423.1:c.328A>G (AKAP9) | ||
| NM_005751.4:c.8894A>G , LRG_331t1:c.8894A>G (AKAP9) | NP_005742.4:p.Tyr2965Cys | |
| NM_147185.2:c.8870A>G (AKAP9) | NP_671714.1:p.Tyr2957Cys | |
| XM_006715827.1:c.8753A>G (AKAP9) | XP_006715890.1:p.Tyr2918Cys | |
| XM_011515709.1:c.9041A>G (AKAP9) | XP_011514011.1:p.Tyr3014Cys | |
| XM_011515710.1:c.9065A>G (AKAP9) | XP_011514012.1:p.Tyr3022Cys | |
| XM_011515711.1:c.9005A>G (AKAP9) | XP_011514013.1:p.Tyr3002Cys | |
| XM_011515712.1:c.9002A>G (AKAP9) | XP_011514014.1:p.Tyr3001Cys | |
| XM_011515713.1:c.8987A>G (AKAP9) | XP_011514015.1:p.Tyr2996Cys | |
| XM_011515714.1:c.9026A>G (AKAP9) | XP_011514016.1:p.Tyr3009Cys | |
| XM_011515716.1:c.8945A>G (AKAP9) | XP_011514018.1:p.Tyr2982Cys | |
| XM_011515717.1:c.8900A>G (AKAP9) | XP_011514019.1:p.Tyr2967Cys | |
| XM_011515718.1:c.8930A>G (AKAP9) | XP_011514020.1:p.Tyr2977Cys | |
| XM_011515719.1:c.8906A>G (AKAP9) | XP_011514021.1:p.Tyr2969Cys | |
| XM_011515720.1:c.8789A>G (AKAP9) | XP_011514022.1:p.Tyr2930Cys | |
| XM_011515721.1:c.3554A>G (AKAP9) | XP_011514023.1:p.Tyr1185Cys | |
| XM_011515722.1:c.3515A>G (AKAP9) | XP_011514024.1:p.Tyr1172Cys | |
| XM_017011642.2:c.9029A>G (AKAP9) | XP_016867131.1:p.Tyr3010Cys | |
| XM_017011643.2:c.8990A>G (AKAP9) | XP_016867132.1:p.Tyr2997Cys | |
| XM_017011644.2:c.9029A>G (AKAP9) | XP_016867133.1:p.Tyr3010Cys | |
| XM_017011645.2:c.8975A>G (AKAP9) | XP_016867134.1:p.Tyr2992Cys | |
| XM_017011646.2:c.8990A>G (AKAP9) | XP_016867135.1:p.Tyr2997Cys | |
| XM_017011647.2:c.8936A>G (AKAP9) | XP_016867136.1:p.Tyr2979Cys | |
| XM_017011648.2:c.8933A>G (AKAP9) | XP_016867137.1:p.Tyr2978Cys | |
| XM_017011649.2:c.8966A>G (AKAP9) | XP_016867138.1:p.Tyr2989Cys | |
| XM_017011650.2:c.8894A>G (AKAP9) | XP_016867139.1:p.Tyr2965Cys | |
| XM_017011651.2:c.8888A>G (AKAP9) | XP_016867140.1:p.Tyr2963Cys | |
| XM_017011652.2:c.9029A>G (AKAP9) | XP_016867141.1:p.Tyr3010Cys | |
| XM_017011653.2:c.8801A>G (AKAP9) | XP_016867142.1:p.Tyr2934Cys | |
| XM_017011654.2:c.8753A>G (AKAP9) | XP_016867143.1:p.Tyr2918Cys | |
| XM_017011655.2:c.8657A>G (AKAP9) | XP_016867144.1:p.Tyr2886Cys | |
| XM_017011656.2:c.8657A>G (AKAP9) | XP_016867145.1:p.Tyr2886Cys | |
| XM_017011657.2:c.4694A>G (AKAP9) | XP_016867146.1:p.Tyr1565Cys | |
| XM_017011658.2:c.3578A>G (AKAP9) | XP_016867147.1:p.Tyr1193Cys | |
| XM_017011659.2:c.3539A>G (AKAP9) | XP_016867148.1:p.Tyr1180Cys | |
| XM_017011660.2:c.3539A>G (AKAP9) | XP_016867149.1:p.Tyr1180Cys | |
| XM_024446631.1:c.8792A>G (AKAP9) | XP_024302399.1:p.Tyr2931Cys | |
| NM_147185.3:c.8870A>G (AKAP9) | NP_671714.1:p.Tyr2957Cys | |
| NM_001379277.1:c.3539A>G (AKAP9) | NP_001366206.1:p.Tyr1180Cys | |
| NM_005751.5:c.8894A>G (AKAP9) MANE Select | NP_005742.4:p.Tyr2965Cys |