Linked Data
ClinVar Variation Id:
519410
dbSNP Id:
rs150579291
ExAC:
7:91722498 A / G
gnomAD v2:
7-91722498-A-G
gnomAD v3:
7-92093184-A-G
gnomAD v4:
7-92093184-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92093184A>G , CM000669.2:g.92093184A>G | GRCh38 |
| NC_000007.13:g.91722498A>G , CM000669.1:g.91722498A>G | GRCh37 |
| NC_000007.12:g.91560434A>G | NCBI36 |
| NG_011623.1:g.157310A>G , LRG_331:g.157310A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-7582T>C (CYP51A1) | ENSP00000510368.1:n.1352-7582T>C | |
| ENST00000356239.8:c.9446A>G (AKAP9) MANE Select | ENSP00000348573.3:p.Glu3149Gly | |
| ENST00000359028.7:c.9518A>G (AKAP9) | ENSP00000351922.4:p.Glu3173Gly | |
| ENST00000394534.7:c.2939A>G (AKAP9) | ENSP00000378042.3:p.Glu980Gly | |
| ENST00000487692.2:n.1524A>G (AKAP9) | ||
| ENST00000491695.2:c.4091A>G (AKAP9) | ENSP00000494626.2:p.Glu1364Gly | |
| ENST00000679448.1:c.*326A>G (AKAP9) | ENSP00000505889.1:n.*326A>G | |
| ENST00000679457.1:c.9422A>G (AKAP9) | ENSP00000505450.1:p.Glu3141Gly | |
| ENST00000679474.1:n.9644A>G (AKAP9) | ||
| ENST00000679521.1:c.9392A>G (AKAP9) | ENSP00000505456.1:p.Glu3131Gly | |
| ENST00000679821.1:c.9188A>G (AKAP9) | ENSP00000506040.1:p.Glu3063Gly | |
| ENST00000680047.1:n.9644A>G (AKAP9) | ||
| ENST00000680072.1:c.9269A>G (AKAP9) | ENSP00000506581.1:p.Glu3090Gly | |
| ENST00000680181.1:c.9353A>G (AKAP9) | ENSP00000505548.1:p.Glu3118Gly | |
| ENST00000680365.1:c.2939A>G (AKAP9) | ENSP00000506019.1:p.Glu980Gly | |
| ENST00000680513.1:c.9305A>G (AKAP9) | ENSP00000505284.1:p.Glu3102Gly | |
| ENST00000680534.1:c.9485A>G (AKAP9) | ENSP00000506674.1:p.Glu3162Gly | |
| ENST00000680766.1:c.9422A>G (AKAP9) | ENSP00000505204.1:p.Glu3141Gly | |
| ENST00000680952.1:c.9422A>G (AKAP9) | ENSP00000506407.1:p.Glu3141Gly | |
| ENST00000681216.1:c.3206A>G (AKAP9) | ENSP00000505551.1:n.3206A>G | |
| ENST00000681412.1:c.9446A>G (AKAP9) | ENSP00000506486.1:p.Glu3149Gly | |
| ENST00000681722.1:c.9422A>G (AKAP9) | ENSP00000506566.1:p.Glu3141Gly | |
| ENST00000356239.7:c.9446A>G (AKAP9) | ENSP00000348573.3:p.Glu3149Gly | |
| ENST00000359028.6:c.9455A>G (AKAP9) | ENSP00000351922.3:p.Glu3152Gly | |
| ENST00000394534.6:c.2984A>G (AKAP9) | ENSP00000378042.2:p.Glu995Gly | |
| ENST00000487258.5:n.1196A>G (AKAP9) | ||
| NM_005751.4:c.9446A>G , LRG_331t1:c.9446A>G (AKAP9) | NP_005742.4:p.Glu3149Gly | |
| NM_147185.2:c.9422A>G (AKAP9) | NP_671714.1:p.Glu3141Gly | |
| XM_006715827.1:c.9305A>G (AKAP9) | XP_006715890.1:p.Glu3102Gly | |
| XM_011515709.1:c.9593A>G (AKAP9) | XP_011514011.1:p.Glu3198Gly | |
| XM_011515710.1:c.9617A>G (AKAP9) | XP_011514012.1:p.Glu3206Gly | |
| XM_011515711.1:c.9557A>G (AKAP9) | XP_011514013.1:p.Glu3186Gly | |
| XM_011515712.1:c.9554A>G (AKAP9) | XP_011514014.1:p.Glu3185Gly | |
| XM_011515713.1:c.9539A>G (AKAP9) | XP_011514015.1:p.Glu3180Gly | |
| XM_011515714.1:c.9578A>G (AKAP9) | XP_011514016.1:p.Glu3193Gly | |
| XM_011515716.1:c.9497A>G (AKAP9) | XP_011514018.1:p.Glu3166Gly | |
| XM_011515717.1:c.9452A>G (AKAP9) | XP_011514019.1:p.Glu3151Gly | |
| XM_011515718.1:c.9482A>G (AKAP9) | XP_011514020.1:p.Glu3161Gly | |
| XM_011515719.1:c.9458A>G (AKAP9) | XP_011514021.1:p.Glu3153Gly | |
| XM_011515721.1:c.4106A>G (AKAP9) | XP_011514023.1:p.Glu1369Gly | |
| XM_011515722.1:c.4067A>G (AKAP9) | XP_011514024.1:p.Glu1356Gly | |
| XM_017011642.2:c.9581A>G (AKAP9) | XP_016867131.1:p.Glu3194Gly | |
| XM_017011643.2:c.9542A>G (AKAP9) | XP_016867132.1:p.Glu3181Gly | |
| XM_017011644.2:c.9581A>G (AKAP9) | XP_016867133.1:p.Glu3194Gly | |
| XM_017011645.2:c.9527A>G (AKAP9) | XP_016867134.1:p.Glu3176Gly | |
| XM_017011646.2:c.9542A>G (AKAP9) | XP_016867135.1:p.Glu3181Gly | |
| XM_017011647.2:c.9488A>G (AKAP9) | XP_016867136.1:p.Glu3163Gly | |
| XM_017011648.2:c.9485A>G (AKAP9) | XP_016867137.1:p.Glu3162Gly | |
| XM_017011649.2:c.9518A>G (AKAP9) | XP_016867138.1:p.Glu3173Gly | |
| XM_017011650.2:c.9446A>G (AKAP9) | XP_016867139.1:p.Glu3149Gly | |
| XM_017011651.2:c.9440A>G (AKAP9) | XP_016867140.1:p.Glu3147Gly | |
| XM_017011652.2:c.9392A>G (AKAP9) | XP_016867141.1:p.Glu3131Gly | |
| XM_017011653.2:c.9353A>G (AKAP9) | XP_016867142.1:p.Glu3118Gly | |
| XM_017011654.2:c.9305A>G (AKAP9) | XP_016867143.1:p.Glu3102Gly | |
| XM_017011655.2:c.9209A>G (AKAP9) | XP_016867144.1:p.Glu3070Gly | |
| XM_017011656.2:c.9209A>G (AKAP9) | XP_016867145.1:p.Glu3070Gly | |
| XM_017011657.2:c.5246A>G (AKAP9) | XP_016867146.1:p.Glu1749Gly | |
| XM_017011658.2:c.4130A>G (AKAP9) | XP_016867147.1:p.Glu1377Gly | |
| XM_017011659.2:c.4091A>G (AKAP9) | XP_016867148.1:p.Glu1364Gly | |
| XM_017011660.2:c.4091A>G (AKAP9) | XP_016867149.1:p.Glu1364Gly | |
| XM_024446631.1:c.9344A>G (AKAP9) | XP_024302399.1:p.Glu3115Gly | |
| NM_147185.3:c.9422A>G (AKAP9) | NP_671714.1:p.Glu3141Gly | |
| NM_001379277.1:c.4091A>G (AKAP9) | NP_001366206.1:p.Glu1364Gly | |
| NM_005751.5:c.9446A>G (AKAP9) MANE Select | NP_005742.4:p.Glu3149Gly |