ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00037935 (AFR)
Genomes Max Group AF
0.00031892 (AFR)
Exomes Max Group AF
0.00034735 (AFR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49112625A>G , CM000665.2:g.49112625A>G | GRCh38 |
| NC_000003.11:g.49150058A>G , CM000665.1:g.49150058A>G | GRCh37 |
| NC_000003.10:g.49125062A>G | NCBI36 |
| NG_054716.1:g.13314T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698200.1:c.2291T>C | ENSP00000513604.2:p.Ile764Thr | |
| ENST00000306026.6:c.2465T>C | ENSP00000303503.6:p.Ile822Thr | |
| ENST00000398896.6:c.2162T>C | ENSP00000381870.3:p.Ile721Thr | |
| ENST00000417901.6:c.2510T>C MANE Select | ENSP00000395260.1:p.Ile837Thr | |
| ENST00000465902.2:c.2201T>C | ENSP00000499646.2:p.Ile734Thr | |
| ENST00000689715.1:c.2354T>C | ENSP00000510256.1:p.Ile785Thr | |
| ENST00000691288.1:c.2168T>C | ENSP00000508481.1:p.Ile723Thr | |
| ENST00000692912.1:c.2510T>C | ENSP00000508993.1:p.Ile837Thr | |
| ENST00000693111.1:c.2201T>C | ENSP00000509474.1:p.Ile734Thr | |
| ENST00000398888.6:c.2201T>C | ENSP00000381863.2:p.Ile734Thr | |
| ENST00000398892.7:c.2321T>C | ENSP00000381867.3:p.Ile774Thr | |
| ENST00000398896.5:c.1896T>C | ||
| ENST00000398898.6:c.2321T>C | ENSP00000381872.2:p.Ile774Thr | |
| ENST00000417901.5:c.2510T>C | ENSP00000395260.1:p.Ile837Thr | |
| ENST00000434032.6:c.2504T>C | ENSP00000401197.2:p.Ile835Thr | |
| ENST00000453664.5:c.2474T>C | ENSP00000400090.1:p.Ile825Thr | |
| NM_001199160.1:c.2504T>C | NP_001186089.1:p.Ile835Thr | |
| NM_001199161.1:c.2510T>C | NP_001186090.1:p.Ile837Thr | |
| NM_001199162.1:c.2474T>C | NP_001186091.1:p.Ile825Thr | |
| NM_006677.2:c.2201T>C | NP_006668.1:p.Ile734Thr | |
| XM_005264823.1:c.2516T>C | XP_005264880.1:p.Ile839Thr | |
| XM_005264824.2:c.2516T>C | XP_005264881.1:p.Ile839Thr | |
| XM_005264825.1:c.2510T>C | XP_005264882.1:p.Ile837Thr | |
| XM_005264826.1:c.2510T>C | XP_005264883.1:p.Ile837Thr | |
| XM_005264827.1:c.2471T>C | XP_005264884.1:p.Ile824Thr | |
| XM_005264829.1:c.2516T>C | XP_005264886.1:p.Ile839Thr | |
| XM_005264830.1:c.2213T>C | XP_005264887.1:p.Ile738Thr | |
| XM_005264831.1:c.2162T>C | XP_005264888.1:p.Ile721Thr | |
| XM_006712946.1:c.2513T>C | XP_006713009.1:p.Ile838Thr | |
| XM_006712947.1:c.2462T>C | XP_006713010.1:p.Ile821Thr | |
| XM_006712948.1:c.2504T>C | XP_006713011.1:p.Ile835Thr | |
| XM_006712949.1:c.2366T>C | XP_006713012.1:p.Ile789Thr | |
| XM_006712950.1:c.2465T>C | XP_006713013.1:p.Ile822Thr | |
| XM_006712951.1:c.2462T>C | XP_006713014.1:p.Ile821Thr | |
| XM_006712952.1:c.2459T>C | XP_006713015.1:p.Ile820Thr | |
| XM_006712953.1:c.2459T>C | XP_006713016.1:p.Ile820Thr | |
| NM_001351098.1:c.2471T>C | NP_001338027.1:p.Ile824Thr | |
| NM_001351099.1:c.2501T>C | NP_001338028.1:p.Ile834Thr | |
| NM_001351100.1:c.2507T>C | NP_001338029.1:p.Ile836Thr | |
| NM_001351101.1:c.2510T>C | NP_001338030.1:p.Ile837Thr | |
| NM_001351102.1:c.2162T>C | NP_001338031.1:p.Ile721Thr | |
| NM_001351103.1:c.2207T>C | NP_001338032.1:p.Ile736Thr | |
| NM_001351104.1:c.2213T>C | NP_001338033.1:p.Ile738Thr | |
| NM_001351105.1:c.2354T>C | NP_001338034.1:p.Ile785Thr | |
| NM_001351106.1:c.2207T>C | NP_001338035.1:p.Ile736Thr | |
| NM_001351107.1:c.2465T>C | NP_001338036.1:p.Ile822Thr | |
| NM_001351108.1:c.2168T>C | NP_001338037.1:p.Ile723Thr | |
| XM_005264823.3:c.2516T>C | XP_005264880.1:p.Ile839Thr | |
| XM_005264825.3:c.2510T>C | XP_005264882.1:p.Ile837Thr | |
| XM_005264826.3:c.2510T>C | XP_005264883.1:p.Ile837Thr | |
| XM_005264827.2:c.2471T>C | XP_005264884.1:p.Ile824Thr | |
| XM_005264829.3:c.2516T>C | XP_005264886.1:p.Ile839Thr | |
| XM_005264830.3:c.2213T>C | XP_005264887.1:p.Ile738Thr | |
| XM_006712946.3:c.2513T>C | XP_006713009.1:p.Ile838Thr | |
| XM_006712947.2:c.2462T>C | XP_006713010.1:p.Ile821Thr | |
| XM_006712948.3:c.2504T>C | XP_006713011.1:p.Ile835Thr | |
| XM_006712949.3:c.2366T>C | XP_006713012.1:p.Ile789Thr | |
| XM_006712951.2:c.2462T>C | XP_006713014.1:p.Ile821Thr | |
| XM_006712952.2:c.2459T>C | XP_006713015.1:p.Ile820Thr | |
| XM_017005616.2:c.2501T>C | XP_016861105.1:p.Ile834Thr | |
| XM_017005617.1:c.2465T>C | XP_016861106.1:p.Ile822Thr | |
| XM_017005619.2:c.2507T>C | XP_016861108.1:p.Ile836Thr | |
| XM_017005621.2:c.2360T>C | XP_016861110.1:p.Ile787Thr | |
| XM_017005624.2:c.2354T>C | XP_016861113.1:p.Ile785Thr | |
| XM_017005625.2:c.2207T>C | XP_016861114.1:p.Ile736Thr | |
| XM_017005626.1:c.2201T>C | XP_016861115.1:p.Ile734Thr | |
| XM_017005627.1:c.2168T>C | XP_016861116.1:p.Ile723Thr | |
| XM_017005628.1:c.2162T>C | XP_016861117.1:p.Ile721Thr | |
| XM_017005629.1:c.2156T>C | XP_016861118.1:p.Ile719Thr | |
| XM_017005633.2:c.2201T>C | XP_016861122.1:p.Ile734Thr | |
| XM_017005635.1:c.860T>C | XP_016861124.1:p.Ile287Thr | |
| NM_001199160.2:c.2504T>C | NP_001186089.1:p.Ile835Thr | |
| NM_001199161.2:c.2510T>C MANE Select | NP_001186090.1:p.Ile837Thr | |
| NM_001199162.2:c.2474T>C | NP_001186091.1:p.Ile825Thr | |
| NM_001351098.2:c.2471T>C | NP_001338027.1:p.Ile824Thr | |
| NM_001351099.2:c.2501T>C | NP_001338028.1:p.Ile834Thr | |
| NM_001351100.2:c.2507T>C | NP_001338029.1:p.Ile836Thr | |
| NM_001351101.2:c.2510T>C | NP_001338030.1:p.Ile837Thr | |
| NM_001351102.2:c.2162T>C | NP_001338031.1:p.Ile721Thr | |
| NM_001351103.2:c.2207T>C | NP_001338032.1:p.Ile736Thr | |
| NM_001351104.2:c.2213T>C | NP_001338033.1:p.Ile738Thr | |
| NM_001351105.2:c.2354T>C | NP_001338034.1:p.Ile785Thr | |
| NM_001351106.2:c.2207T>C | NP_001338035.1:p.Ile736Thr | |
| NM_001351107.2:c.2465T>C | NP_001338036.1:p.Ile822Thr | |
| NM_001351108.2:c.2168T>C | NP_001338037.1:p.Ile723Thr | |
| NM_001389594.1:c.2510T>C | NP_001376523.1:p.Ile837Thr | |
| NM_001389595.1:c.2510T>C | NP_001376524.1:p.Ile837Thr | |
| NM_001389596.1:c.2516T>C | NP_001376525.1:p.Ile839Thr | |
| NM_001389597.1:c.2213T>C | NP_001376526.1:p.Ile738Thr | |
| NM_001389598.1:c.2504T>C | NP_001376527.1:p.Ile835Thr | |
| NM_001389599.1:c.2462T>C | NP_001376528.1:p.Ile821Thr | |
| NM_001389600.1:c.2459T>C | NP_001376529.1:p.Ile820Thr | |
| NM_001389601.1:c.2459T>C | NP_001376530.1:p.Ile820Thr | |
| NM_001389602.1:c.2501T>C | NP_001376531.1:p.Ile834Thr | |
| NM_001389603.1:c.2465T>C | NP_001376532.1:p.Ile822Thr | |
| NM_001389604.1:c.2507T>C | NP_001376533.1:p.Ile836Thr | |
| NM_001389605.1:c.2354T>C | NP_001376534.1:p.Ile785Thr | |
| NM_001389606.1:c.2207T>C | NP_001376535.1:p.Ile736Thr | |
| NM_001389607.1:c.2162T>C | NP_001376536.1:p.Ile721Thr | |
| NM_001389608.1:c.2201T>C | NP_001376537.1:p.Ile734Thr | |
| NM_006677.3:c.2201T>C | NP_006668.1:p.Ile734Thr | |
| NM_001400288.1:c.2510T>C | NP_001387217.1:p.Ile837Thr | |
| NM_001400290.1:c.2513T>C | NP_001387219.1:p.Ile838Thr | |
| NM_001400292.1:c.2510T>C | NP_001387221.1:p.Ile837Thr | |
| NM_001400293.1:c.2504T>C | NP_001387222.1:p.Ile835Thr | |
| NM_001400294.1:c.2504T>C | NP_001387223.1:p.Ile835Thr | |
| NM_001400295.1:c.2468T>C | NP_001387224.1:p.Ile823Thr | |
| NM_001400296.1:c.2465T>C | NP_001387225.1:p.Ile822Thr | |
| NM_001400297.1:c.2465T>C | NP_001387226.1:p.Ile822Thr | |
| NM_001400298.1:c.2456T>C | NP_001387227.1:p.Ile819Thr | |
| NM_001400299.1:c.2435T>C | NP_001387228.1:p.Ile812Thr |