Linked Data
ClinVar Variation Id:
360845
dbSNP Id:
rs180926926
ExAC:
7:91718853 A / G
gnomAD v2:
7-91718853-A-G
gnomAD v3:
7-92089539-A-G
gnomAD v4:
7-92089539-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92089539A>G , CM000669.2:g.92089539A>G | GRCh38 |
| NC_000007.13:g.91718853A>G , CM000669.1:g.91718853A>G | GRCh37 |
| NC_000007.12:g.91556789A>G | NCBI36 |
| NG_011623.1:g.153665A>G , LRG_331:g.153665A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-3937T>C (CYP51A1) | ENSP00000510368.1:n.1352-3937T>C | |
| ENST00000356239.8:c.9358+10A>G (AKAP9) MANE Select | ENSP00000348573.3:n.9358+10A>G | |
| ENST00000359028.7:c.9430+10A>G (AKAP9) | ENSP00000351922.4:n.9430+10A>G | |
| ENST00000394534.7:c.2851+10A>G (AKAP9) | ENSP00000378042.3:n.2851+10A>G | |
| ENST00000435423.2:n.1208A>G (AKAP9) | ||
| ENST00000491695.2:c.4003+10A>G (AKAP9) | ENSP00000494626.2:n.4003+10A>G | |
| ENST00000679448.1:c.9334+10A>G (AKAP9) | ENSP00000505889.1:n.9334+10A>G | |
| ENST00000679457.1:c.9334+10A>G (AKAP9) | ENSP00000505450.1:n.9334+10A>G | |
| ENST00000679474.1:n.9556+10A>G (AKAP9) | ||
| ENST00000679521.1:c.9304+10A>G (AKAP9) | ENSP00000505456.1:n.9304+10A>G | |
| ENST00000679821.1:c.9100+10A>G (AKAP9) | ENSP00000506040.1:n.9100+10A>G | |
| ENST00000680047.1:n.9556+10A>G (AKAP9) | ||
| ENST00000680072.1:c.9181+10A>G (AKAP9) | ENSP00000506581.1:n.9181+10A>G | |
| ENST00000680181.1:c.9265+10A>G (AKAP9) | ENSP00000505548.1:n.9265+10A>G | |
| ENST00000680365.1:c.2851+10A>G (AKAP9) | ENSP00000506019.1:n.2851+10A>G | |
| ENST00000680513.1:c.9217+10A>G (AKAP9) | ENSP00000505284.1:n.9217+10A>G | |
| ENST00000680534.1:c.9397+10A>G (AKAP9) | ENSP00000506674.1:n.9397+10A>G | |
| ENST00000680766.1:c.9334+10A>G (AKAP9) | ENSP00000505204.1:n.9334+10A>G | |
| ENST00000680952.1:c.9334+10A>G (AKAP9) | ENSP00000506407.1:n.9334+10A>G | |
| ENST00000681216.1:c.2695+10A>G (AKAP9) | ENSP00000505551.1:n.2695+10A>G | |
| ENST00000681412.1:c.9358+10A>G (AKAP9) | ENSP00000506486.1:n.9358+10A>G | |
| ENST00000681722.1:c.9334+10A>G (AKAP9) | ENSP00000506566.1:n.9334+10A>G | |
| ENST00000356239.7:c.9358+10A>G (AKAP9) | ENSP00000348573.3:n.9358+10A>G | |
| ENST00000358100.6:c.9227A>G (AKAP9) | ENSP00000350813.3:p.Tyr3076Cys | |
| ENST00000359028.6:c.9367+10A>G (AKAP9) | ENSP00000351922.3:n.9367+10A>G | |
| ENST00000394534.6:c.2896+10A>G (AKAP9) | ENSP00000378042.2:n.2896+10A>G | |
| ENST00000435423.1:c.802A>G (AKAP9) | ||
| NM_005751.4:c.9358+10A>G , LRG_331t1:c.9358+10A>G (AKAP9) | NP_005742.4:n.9358+10A>G | |
| NM_147185.2:c.9334+10A>G (AKAP9) | NP_671714.1:n.9334+10A>G | |
| XM_006715827.1:c.9217+10A>G (AKAP9) | XP_006715890.1:n.9217+10A>G | |
| XM_011515709.1:c.9505+10A>G (AKAP9) | XP_011514011.1:n.9505+10A>G | |
| XM_011515710.1:c.9529+10A>G (AKAP9) | XP_011514012.1:n.9529+10A>G | |
| XM_011515711.1:c.9469+10A>G (AKAP9) | XP_011514013.1:n.9469+10A>G | |
| XM_011515712.1:c.9466+10A>G (AKAP9) | XP_011514014.1:n.9466+10A>G | |
| XM_011515713.1:c.9451+10A>G (AKAP9) | XP_011514015.1:n.9451+10A>G | |
| XM_011515714.1:c.9490+10A>G (AKAP9) | XP_011514016.1:n.9490+10A>G | |
| XM_011515716.1:c.9409+10A>G (AKAP9) | XP_011514018.1:n.9409+10A>G | |
| XM_011515717.1:c.9364+10A>G (AKAP9) | XP_011514019.1:n.9364+10A>G | |
| XM_011515718.1:c.9394+10A>G (AKAP9) | XP_011514020.1:n.9394+10A>G | |
| XM_011515719.1:c.9370+10A>G (AKAP9) | XP_011514021.1:n.9370+10A>G | |
| XM_011515720.1:c.9263A>G (AKAP9) | XP_011514022.1:p.Tyr3088Cys | |
| XM_011515721.1:c.4018+10A>G (AKAP9) | XP_011514023.1:n.4018+10A>G | |
| XM_011515722.1:c.3979+10A>G (AKAP9) | XP_011514024.1:n.3979+10A>G | |
| XM_017011642.2:c.9493+10A>G (AKAP9) | XP_016867131.1:n.9493+10A>G | |
| XM_017011643.2:c.9454+10A>G (AKAP9) | XP_016867132.1:n.9454+10A>G | |
| XM_017011644.2:c.9493+10A>G (AKAP9) | XP_016867133.1:n.9493+10A>G | |
| XM_017011645.2:c.9439+10A>G (AKAP9) | XP_016867134.1:n.9439+10A>G | |
| XM_017011646.2:c.9454+10A>G (AKAP9) | XP_016867135.1:n.9454+10A>G | |
| XM_017011647.2:c.9400+10A>G (AKAP9) | XP_016867136.1:n.9400+10A>G | |
| XM_017011648.2:c.9397+10A>G (AKAP9) | XP_016867137.1:n.9397+10A>G | |
| XM_017011649.2:c.9430+10A>G (AKAP9) | XP_016867138.1:n.9430+10A>G | |
| XM_017011650.2:c.9358+10A>G (AKAP9) | XP_016867139.1:n.9358+10A>G | |
| XM_017011651.2:c.9352+10A>G (AKAP9) | XP_016867140.1:n.9352+10A>G | |
| XM_017011652.2:c.9304+10A>G (AKAP9) | XP_016867141.1:n.9304+10A>G | |
| XM_017011653.2:c.9265+10A>G (AKAP9) | XP_016867142.1:n.9265+10A>G | |
| XM_017011654.2:c.9217+10A>G (AKAP9) | XP_016867143.1:n.9217+10A>G | |
| XM_017011655.2:c.9121+10A>G (AKAP9) | XP_016867144.1:n.9121+10A>G | |
| XM_017011656.2:c.9121+10A>G (AKAP9) | XP_016867145.1:n.9121+10A>G | |
| XM_017011657.2:c.5158+10A>G (AKAP9) | XP_016867146.1:n.5158+10A>G | |
| XM_017011658.2:c.4042+10A>G (AKAP9) | XP_016867147.1:n.4042+10A>G | |
| XM_017011659.2:c.4003+10A>G (AKAP9) | XP_016867148.1:n.4003+10A>G | |
| XM_017011660.2:c.4003+10A>G (AKAP9) | XP_016867149.1:n.4003+10A>G | |
| XM_024446631.1:c.9256+10A>G (AKAP9) | XP_024302399.1:n.9256+10A>G | |
| NM_147185.3:c.9334+10A>G (AKAP9) | NP_671714.1:n.9334+10A>G | |
| NM_001379277.1:c.4003+10A>G (AKAP9) | NP_001366206.1:n.4003+10A>G | |
| NM_005751.5:c.9358+10A>G (AKAP9) MANE Select | NP_005742.4:n.9358+10A>G |