Linked Data
ClinVar Variation Id:
360849
dbSNP Id:
rs767245893
ExAC:
7:91727525 A / G
gnomAD v2:
7-91727525-A-G
gnomAD v3:
7-92098211-A-G
gnomAD v4:
7-92098211-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92098211A>G , CM000669.2:g.92098211A>G | GRCh38 |
| NC_000007.13:g.91727525A>G , CM000669.1:g.91727525A>G | GRCh37 |
| NC_000007.12:g.91565461A>G | NCBI36 |
| NG_011623.1:g.162337A>G , LRG_331:g.162337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-12609T>C (CYP51A1) | ENSP00000510368.1:n.1352-12609T>C | |
| ENST00000356239.8:c.10710A>G (AKAP9) MANE Select | ENSP00000348573.3:p.Glu3570= | |
| ENST00000359028.7:c.10782A>G (AKAP9) | ENSP00000351922.4:p.Glu3594= | |
| ENST00000394534.7:c.3702A>G (AKAP9) | ENSP00000378042.3:p.Glu1234= | |
| ENST00000463118.2:n.58A>G (AKAP9) | ||
| ENST00000486313.2:c.198A>G (AKAP9) | ENSP00000505389.1:p.Glu66= | |
| ENST00000487692.2:n.2788A>G (AKAP9) | ||
| ENST00000491695.2:c.5355A>G (AKAP9) | ENSP00000494626.2:p.Glu1785= | |
| ENST00000679448.1:c.*1590A>G (AKAP9) | ENSP00000505889.1:n.*1590A>G | |
| ENST00000679457.1:c.10686A>G (AKAP9) | ENSP00000505450.1:p.Glu3562= | |
| ENST00000679474.1:n.10908A>G (AKAP9) | ||
| ENST00000679521.1:c.10656A>G (AKAP9) | ENSP00000505456.1:p.Glu3552= | |
| ENST00000679821.1:c.10452A>G (AKAP9) | ENSP00000506040.1:p.Glu3484= | |
| ENST00000680047.1:n.10908A>G (AKAP9) | ||
| ENST00000680072.1:c.10533A>G (AKAP9) | ENSP00000506581.1:p.Glu3511= | |
| ENST00000680181.1:c.10617A>G (AKAP9) | ENSP00000505548.1:p.Glu3539= | |
| ENST00000680365.1:c.4349A>G (AKAP9) | ENSP00000506019.1:n.4349A>G | |
| ENST00000680513.1:c.10569A>G (AKAP9) | ENSP00000505284.1:p.Glu3523= | |
| ENST00000680534.1:c.10749A>G (AKAP9) | ENSP00000506674.1:p.Glu3583= | |
| ENST00000680766.1:c.10686A>G (AKAP9) | ENSP00000505204.1:p.Glu3562= | |
| ENST00000680952.1:c.10686A>G (AKAP9) | ENSP00000506407.1:p.Glu3562= | |
| ENST00000681216.1:c.4470A>G (AKAP9) | ENSP00000505551.1:n.4470A>G | |
| ENST00000681412.1:c.10710A>G (AKAP9) | ENSP00000506486.1:p.Glu3570= | |
| ENST00000681722.1:c.10686A>G (AKAP9) | ENSP00000506566.1:p.Glu3562= | |
| ENST00000356239.7:c.10710A>G (AKAP9) | ENSP00000348573.3:p.Glu3570= | |
| ENST00000359028.6:c.10719A>G (AKAP9) | ENSP00000351922.3:p.Glu3573= | |
| ENST00000394534.6:c.4248A>G (AKAP9) | ENSP00000378042.2:p.Glu1416= | |
| ENST00000463118.1:n.58A>G (AKAP9) | ||
| ENST00000487258.5:n.2460A>G (AKAP9) | ||
| ENST00000487692.1:n.510A>G (AKAP9) | ||
| NM_005751.4:c.10710A>G , LRG_331t1:c.10710A>G (AKAP9) | NP_005742.4:p.Glu3570= | |
| NM_147185.2:c.10686A>G (AKAP9) | NP_671714.1:p.Glu3562= | |
| XM_006715827.1:c.10569A>G (AKAP9) | XP_006715890.1:p.Glu3523= | |
| XM_011515709.1:c.10857A>G (AKAP9) | XP_011514011.1:p.Glu3619= | |
| XM_011515710.1:c.10881A>G (AKAP9) | XP_011514012.1:p.Glu3627= | |
| XM_011515711.1:c.10821A>G (AKAP9) | XP_011514013.1:p.Glu3607= | |
| XM_011515712.1:c.10818A>G (AKAP9) | XP_011514014.1:p.Glu3606= | |
| XM_011515713.1:c.10803A>G (AKAP9) | XP_011514015.1:p.Glu3601= | |
| XM_011515714.1:c.10842A>G (AKAP9) | XP_011514016.1:p.Glu3614= | |
| XM_011515716.1:c.10761A>G (AKAP9) | XP_011514018.1:p.Glu3587= | |
| XM_011515717.1:c.10716A>G (AKAP9) | XP_011514019.1:p.Glu3572= | |
| XM_011515718.1:c.10746A>G (AKAP9) | XP_011514020.1:p.Glu3582= | |
| XM_011515719.1:c.10722A>G (AKAP9) | XP_011514021.1:p.Glu3574= | |
| XM_011515721.1:c.5370A>G (AKAP9) | XP_011514023.1:p.Glu1790= | |
| XM_011515722.1:c.5331A>G (AKAP9) | XP_011514024.1:p.Glu1777= | |
| XM_017011642.2:c.10845A>G (AKAP9) | XP_016867131.1:p.Glu3615= | |
| XM_017011643.2:c.10806A>G (AKAP9) | XP_016867132.1:p.Glu3602= | |
| XM_017011644.2:c.10845A>G (AKAP9) | XP_016867133.1:p.Glu3615= | |
| XM_017011645.2:c.10791A>G (AKAP9) | XP_016867134.1:p.Glu3597= | |
| XM_017011646.2:c.10806A>G (AKAP9) | XP_016867135.1:p.Glu3602= | |
| XM_017011647.2:c.10752A>G (AKAP9) | XP_016867136.1:p.Glu3584= | |
| XM_017011648.2:c.10749A>G (AKAP9) | XP_016867137.1:p.Glu3583= | |
| XM_017011649.2:c.10782A>G (AKAP9) | XP_016867138.1:p.Glu3594= | |
| XM_017011650.2:c.10710A>G (AKAP9) | XP_016867139.1:p.Glu3570= | |
| XM_017011651.2:c.10704A>G (AKAP9) | XP_016867140.1:p.Glu3568= | |
| XM_017011652.2:c.10656A>G (AKAP9) | XP_016867141.1:p.Glu3552= | |
| XM_017011653.2:c.10617A>G (AKAP9) | XP_016867142.1:p.Glu3539= | |
| XM_017011654.2:c.10569A>G (AKAP9) | XP_016867143.1:p.Glu3523= | |
| XM_017011655.2:c.10473A>G (AKAP9) | XP_016867144.1:p.Glu3491= | |
| XM_017011656.2:c.10473A>G (AKAP9) | XP_016867145.1:p.Glu3491= | |
| XM_017011657.2:c.6510A>G (AKAP9) | XP_016867146.1:p.Glu2170= | |
| XM_017011658.2:c.5394A>G (AKAP9) | XP_016867147.1:p.Glu1798= | |
| XM_017011659.2:c.5355A>G (AKAP9) | XP_016867148.1:p.Glu1785= | |
| XM_017011660.2:c.5355A>G (AKAP9) | XP_016867149.1:p.Glu1785= | |
| XM_024446631.1:c.10608A>G (AKAP9) | XP_024302399.1:p.Glu3536= | |
| NM_147185.3:c.10686A>G (AKAP9) | NP_671714.1:p.Glu3562= | |
| NM_001379277.1:c.5355A>G (AKAP9) | NP_001366206.1:p.Glu1785= | |
| NM_005751.5:c.10710A>G (AKAP9) MANE Select | NP_005742.4:p.Glu3570= |