Linked Data
ClinVar Variation Id:
527103
dbSNP Id:
rs192845338
ExAC:
7:91724447 A / G
gnomAD v2:
7-91724447-A-G
gnomAD v3:
7-92095133-A-G
gnomAD v4:
7-92095133-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92095133A>G , CM000669.2:g.92095133A>G | GRCh38 |
| NC_000007.13:g.91724447A>G , CM000669.1:g.91724447A>G | GRCh37 |
| NC_000007.12:g.91562383A>G | NCBI36 |
| NG_011623.1:g.159259A>G , LRG_331:g.159259A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-9531T>C (CYP51A1) | ENSP00000510368.1:n.1352-9531T>C | |
| ENST00000356239.8:c.9689A>G (AKAP9) MANE Select | ENSP00000348573.3:p.Lys3230Arg | |
| ENST00000359028.7:c.9761A>G (AKAP9) | ENSP00000351922.4:p.Lys3254Arg | |
| ENST00000394534.7:c.3182A>G (AKAP9) | ENSP00000378042.3:p.Lys1061Arg | |
| ENST00000487692.2:n.1767A>G (AKAP9) | ||
| ENST00000491695.2:c.4334A>G (AKAP9) | ENSP00000494626.2:p.Lys1445Arg | |
| ENST00000679448.1:c.*569A>G (AKAP9) | ENSP00000505889.1:n.*569A>G | |
| ENST00000679457.1:c.9665A>G (AKAP9) | ENSP00000505450.1:p.Lys3222Arg | |
| ENST00000679474.1:n.9887A>G (AKAP9) | ||
| ENST00000679521.1:c.9635A>G (AKAP9) | ENSP00000505456.1:p.Lys3212Arg | |
| ENST00000679821.1:c.9431A>G (AKAP9) | ENSP00000506040.1:p.Lys3144Arg | |
| ENST00000680047.1:n.9887A>G (AKAP9) | ||
| ENST00000680072.1:c.9512A>G (AKAP9) | ENSP00000506581.1:p.Lys3171Arg | |
| ENST00000680181.1:c.9596A>G (AKAP9) | ENSP00000505548.1:p.Lys3199Arg | |
| ENST00000680365.1:c.3182A>G (AKAP9) | ENSP00000506019.1:p.Lys1061Arg | |
| ENST00000680513.1:c.9548A>G (AKAP9) | ENSP00000505284.1:p.Lys3183Arg | |
| ENST00000680534.1:c.9728A>G (AKAP9) | ENSP00000506674.1:p.Lys3243Arg | |
| ENST00000680766.1:c.9665A>G (AKAP9) | ENSP00000505204.1:p.Lys3222Arg | |
| ENST00000680952.1:c.9665A>G (AKAP9) | ENSP00000506407.1:p.Lys3222Arg | |
| ENST00000681216.1:c.3449A>G (AKAP9) | ENSP00000505551.1:n.3449A>G | |
| ENST00000681412.1:c.9689A>G (AKAP9) | ENSP00000506486.1:p.Lys3230Arg | |
| ENST00000681722.1:c.9665A>G (AKAP9) | ENSP00000506566.1:p.Lys3222Arg | |
| ENST00000356239.7:c.9689A>G (AKAP9) | ENSP00000348573.3:p.Lys3230Arg | |
| ENST00000359028.6:c.9698A>G (AKAP9) | ENSP00000351922.3:p.Lys3233Arg | |
| ENST00000394534.6:c.3227A>G (AKAP9) | ENSP00000378042.2:p.Lys1076Arg | |
| ENST00000487258.5:n.1439A>G (AKAP9) | ||
| NM_005751.4:c.9689A>G , LRG_331t1:c.9689A>G (AKAP9) | NP_005742.4:p.Lys3230Arg | |
| NM_147185.2:c.9665A>G (AKAP9) | NP_671714.1:p.Lys3222Arg | |
| XM_006715827.1:c.9548A>G (AKAP9) | XP_006715890.1:p.Lys3183Arg | |
| XM_011515709.1:c.9836A>G (AKAP9) | XP_011514011.1:p.Lys3279Arg | |
| XM_011515710.1:c.9860A>G (AKAP9) | XP_011514012.1:p.Lys3287Arg | |
| XM_011515711.1:c.9800A>G (AKAP9) | XP_011514013.1:p.Lys3267Arg | |
| XM_011515712.1:c.9797A>G (AKAP9) | XP_011514014.1:p.Lys3266Arg | |
| XM_011515713.1:c.9782A>G (AKAP9) | XP_011514015.1:p.Lys3261Arg | |
| XM_011515714.1:c.9821A>G (AKAP9) | XP_011514016.1:p.Lys3274Arg | |
| XM_011515716.1:c.9740A>G (AKAP9) | XP_011514018.1:p.Lys3247Arg | |
| XM_011515717.1:c.9695A>G (AKAP9) | XP_011514019.1:p.Lys3232Arg | |
| XM_011515718.1:c.9725A>G (AKAP9) | XP_011514020.1:p.Lys3242Arg | |
| XM_011515719.1:c.9701A>G (AKAP9) | XP_011514021.1:p.Lys3234Arg | |
| XM_011515721.1:c.4349A>G (AKAP9) | XP_011514023.1:p.Lys1450Arg | |
| XM_011515722.1:c.4310A>G (AKAP9) | XP_011514024.1:p.Lys1437Arg | |
| XM_017011642.2:c.9824A>G (AKAP9) | XP_016867131.1:p.Lys3275Arg | |
| XM_017011643.2:c.9785A>G (AKAP9) | XP_016867132.1:p.Lys3262Arg | |
| XM_017011644.2:c.9824A>G (AKAP9) | XP_016867133.1:p.Lys3275Arg | |
| XM_017011645.2:c.9770A>G (AKAP9) | XP_016867134.1:p.Lys3257Arg | |
| XM_017011646.2:c.9785A>G (AKAP9) | XP_016867135.1:p.Lys3262Arg | |
| XM_017011647.2:c.9731A>G (AKAP9) | XP_016867136.1:p.Lys3244Arg | |
| XM_017011648.2:c.9728A>G (AKAP9) | XP_016867137.1:p.Lys3243Arg | |
| XM_017011649.2:c.9761A>G (AKAP9) | XP_016867138.1:p.Lys3254Arg | |
| XM_017011650.2:c.9689A>G (AKAP9) | XP_016867139.1:p.Lys3230Arg | |
| XM_017011651.2:c.9683A>G (AKAP9) | XP_016867140.1:p.Lys3228Arg | |
| XM_017011652.2:c.9635A>G (AKAP9) | XP_016867141.1:p.Lys3212Arg | |
| XM_017011653.2:c.9596A>G (AKAP9) | XP_016867142.1:p.Lys3199Arg | |
| XM_017011654.2:c.9548A>G (AKAP9) | XP_016867143.1:p.Lys3183Arg | |
| XM_017011655.2:c.9452A>G (AKAP9) | XP_016867144.1:p.Lys3151Arg | |
| XM_017011656.2:c.9452A>G (AKAP9) | XP_016867145.1:p.Lys3151Arg | |
| XM_017011657.2:c.5489A>G (AKAP9) | XP_016867146.1:p.Lys1830Arg | |
| XM_017011658.2:c.4373A>G (AKAP9) | XP_016867147.1:p.Lys1458Arg | |
| XM_017011659.2:c.4334A>G (AKAP9) | XP_016867148.1:p.Lys1445Arg | |
| XM_017011660.2:c.4334A>G (AKAP9) | XP_016867149.1:p.Lys1445Arg | |
| XM_024446631.1:c.9587A>G (AKAP9) | XP_024302399.1:p.Lys3196Arg | |
| NM_147185.3:c.9665A>G (AKAP9) | NP_671714.1:p.Lys3222Arg | |
| NM_001379277.1:c.4334A>G (AKAP9) | NP_001366206.1:p.Lys1445Arg | |
| NM_005751.5:c.9689A>G (AKAP9) MANE Select | NP_005742.4:p.Lys3230Arg |