Linked Data
ClinVar Variation Id:
191527
dbSNP Id:
rs144054367
ExAC:
7:91727487 A / G
gnomAD v2:
7-91727487-A-G
gnomAD v3:
7-92098173-A-G
gnomAD v4:
7-92098173-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92098173A>G , CM000669.2:g.92098173A>G | GRCh38 |
| NC_000007.13:g.91727487A>G , CM000669.1:g.91727487A>G | GRCh37 |
| NC_000007.12:g.91565423A>G | NCBI36 |
| NG_011623.1:g.162299A>G , LRG_331:g.162299A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-12571T>C (CYP51A1) | ENSP00000510368.1:n.1352-12571T>C | |
| ENST00000356239.8:c.10672A>G (AKAP9) MANE Select | ENSP00000348573.3:p.Ile3558Val | |
| ENST00000359028.7:c.10744A>G (AKAP9) | ENSP00000351922.4:p.Ile3582Val | |
| ENST00000394534.7:c.3664A>G (AKAP9) | ENSP00000378042.3:p.Ile1222Val | |
| ENST00000463118.2:n.20A>G (AKAP9) | ||
| ENST00000486313.2:c.160A>G (AKAP9) | ENSP00000505389.1:p.Ile54Val | |
| ENST00000487692.2:n.2750A>G (AKAP9) | ||
| ENST00000491695.2:c.5317A>G (AKAP9) | ENSP00000494626.2:p.Ile1773Val | |
| ENST00000679448.1:c.*1552A>G (AKAP9) | ENSP00000505889.1:n.*1552A>G | |
| ENST00000679457.1:c.10648A>G (AKAP9) | ENSP00000505450.1:p.Ile3550Val | |
| ENST00000679474.1:n.10870A>G (AKAP9) | ||
| ENST00000679521.1:c.10618A>G (AKAP9) | ENSP00000505456.1:p.Ile3540Val | |
| ENST00000679821.1:c.10414A>G (AKAP9) | ENSP00000506040.1:p.Ile3472Val | |
| ENST00000680047.1:n.10870A>G (AKAP9) | ||
| ENST00000680072.1:c.10495A>G (AKAP9) | ENSP00000506581.1:p.Ile3499Val | |
| ENST00000680181.1:c.10579A>G (AKAP9) | ENSP00000505548.1:p.Ile3527Val | |
| ENST00000680365.1:c.4311A>G (AKAP9) | ENSP00000506019.1:n.4311A>G | |
| ENST00000680513.1:c.10531A>G (AKAP9) | ENSP00000505284.1:p.Ile3511Val | |
| ENST00000680534.1:c.10711A>G (AKAP9) | ENSP00000506674.1:p.Ile3571Val | |
| ENST00000680766.1:c.10648A>G (AKAP9) | ENSP00000505204.1:p.Ile3550Val | |
| ENST00000680952.1:c.10648A>G (AKAP9) | ENSP00000506407.1:p.Ile3550Val | |
| ENST00000681216.1:c.4432A>G (AKAP9) | ENSP00000505551.1:n.4432A>G | |
| ENST00000681412.1:c.10672A>G (AKAP9) | ENSP00000506486.1:p.Ile3558Val | |
| ENST00000681722.1:c.10648A>G (AKAP9) | ENSP00000506566.1:p.Ile3550Val | |
| ENST00000356239.7:c.10672A>G (AKAP9) | ENSP00000348573.3:p.Ile3558Val | |
| ENST00000359028.6:c.10681A>G (AKAP9) | ENSP00000351922.3:p.Ile3561Val | |
| ENST00000394534.6:c.4210A>G (AKAP9) | ENSP00000378042.2:p.Ile1404Val | |
| ENST00000463118.1:n.20A>G (AKAP9) | ||
| ENST00000487258.5:n.2422A>G (AKAP9) | ||
| ENST00000487692.1:n.472A>G (AKAP9) | ||
| NM_005751.4:c.10672A>G , LRG_331t1:c.10672A>G (AKAP9) | NP_005742.4:p.Ile3558Val | |
| NM_147185.2:c.10648A>G (AKAP9) | NP_671714.1:p.Ile3550Val | |
| XM_006715827.1:c.10531A>G (AKAP9) | XP_006715890.1:p.Ile3511Val | |
| XM_011515709.1:c.10819A>G (AKAP9) | XP_011514011.1:p.Ile3607Val | |
| XM_011515710.1:c.10843A>G (AKAP9) | XP_011514012.1:p.Ile3615Val | |
| XM_011515711.1:c.10783A>G (AKAP9) | XP_011514013.1:p.Ile3595Val | |
| XM_011515712.1:c.10780A>G (AKAP9) | XP_011514014.1:p.Ile3594Val | |
| XM_011515713.1:c.10765A>G (AKAP9) | XP_011514015.1:p.Ile3589Val | |
| XM_011515714.1:c.10804A>G (AKAP9) | XP_011514016.1:p.Ile3602Val | |
| XM_011515716.1:c.10723A>G (AKAP9) | XP_011514018.1:p.Ile3575Val | |
| XM_011515717.1:c.10678A>G (AKAP9) | XP_011514019.1:p.Ile3560Val | |
| XM_011515718.1:c.10708A>G (AKAP9) | XP_011514020.1:p.Ile3570Val | |
| XM_011515719.1:c.10684A>G (AKAP9) | XP_011514021.1:p.Ile3562Val | |
| XM_011515721.1:c.5332A>G (AKAP9) | XP_011514023.1:p.Ile1778Val | |
| XM_011515722.1:c.5293A>G (AKAP9) | XP_011514024.1:p.Ile1765Val | |
| XM_017011642.2:c.10807A>G (AKAP9) | XP_016867131.1:p.Ile3603Val | |
| XM_017011643.2:c.10768A>G (AKAP9) | XP_016867132.1:p.Ile3590Val | |
| XM_017011644.2:c.10807A>G (AKAP9) | XP_016867133.1:p.Ile3603Val | |
| XM_017011645.2:c.10753A>G (AKAP9) | XP_016867134.1:p.Ile3585Val | |
| XM_017011646.2:c.10768A>G (AKAP9) | XP_016867135.1:p.Ile3590Val | |
| XM_017011647.2:c.10714A>G (AKAP9) | XP_016867136.1:p.Ile3572Val | |
| XM_017011648.2:c.10711A>G (AKAP9) | XP_016867137.1:p.Ile3571Val | |
| XM_017011649.2:c.10744A>G (AKAP9) | XP_016867138.1:p.Ile3582Val | |
| XM_017011650.2:c.10672A>G (AKAP9) | XP_016867139.1:p.Ile3558Val | |
| XM_017011651.2:c.10666A>G (AKAP9) | XP_016867140.1:p.Ile3556Val | |
| XM_017011652.2:c.10618A>G (AKAP9) | XP_016867141.1:p.Ile3540Val | |
| XM_017011653.2:c.10579A>G (AKAP9) | XP_016867142.1:p.Ile3527Val | |
| XM_017011654.2:c.10531A>G (AKAP9) | XP_016867143.1:p.Ile3511Val | |
| XM_017011655.2:c.10435A>G (AKAP9) | XP_016867144.1:p.Ile3479Val | |
| XM_017011656.2:c.10435A>G (AKAP9) | XP_016867145.1:p.Ile3479Val | |
| XM_017011657.2:c.6472A>G (AKAP9) | XP_016867146.1:p.Ile2158Val | |
| XM_017011658.2:c.5356A>G (AKAP9) | XP_016867147.1:p.Ile1786Val | |
| XM_017011659.2:c.5317A>G (AKAP9) | XP_016867148.1:p.Ile1773Val | |
| XM_017011660.2:c.5317A>G (AKAP9) | XP_016867149.1:p.Ile1773Val | |
| XM_024446631.1:c.10570A>G (AKAP9) | XP_024302399.1:p.Ile3524Val | |
| NM_147185.3:c.10648A>G (AKAP9) | NP_671714.1:p.Ile3550Val | |
| NM_001379277.1:c.5317A>G (AKAP9) | NP_001366206.1:p.Ile1773Val | |
| NM_005751.5:c.10672A>G (AKAP9) MANE Select | NP_005742.4:p.Ile3558Val |