Linked Data
dbSNP Id:
rs1265016412
gnomAD v2:
17-80882823-A-G
gnomAD v3:
17-82924947-A-G
gnomAD v4:
17-82924947-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82924947A>G , CM000679.2:g.82924947A>G | GRCh38 |
| NC_000017.10:g.80882823A>G , CM000679.1:g.80882823A>G | GRCh37 |
| NC_000017.9:g.78476112A>G | NCBI36 |
| NG_011721.1:g.177884A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1477A>G | ||
| ENST00000576677.6:n.1398A>G | ||
| ENST00000681983.1:n.2405A>G | ||
| ENST00000682099.1:n.1166A>G | ||
| ENST00000682213.1:c.*240A>G | ENSP00000508166.1:n.*240A>G | |
| ENST00000682315.1:c.583A>G | ENSP00000507232.1:p.Ile195Val | |
| ENST00000682479.1:c.2359A>G | ENSP00000508214.1:p.Ile787Val | |
| ENST00000682610.1:n.1509A>G | ||
| ENST00000682654.1:c.*240A>G | ENSP00000507412.1:n.*240A>G | |
| ENST00000682722.1:c.2218A>G | ENSP00000508364.1:p.Ile740Val | |
| ENST00000683041.1:c.*240A>G | ENSP00000506994.1:n.*240A>G | |
| ENST00000683184.1:c.*1922A>G | ENSP00000507757.1:n.*1922A>G | |
| ENST00000683282.1:c.2185A>G | ENSP00000506913.1:p.Ile729Val | |
| ENST00000683444.1:c.*1846A>G | ENSP00000507553.1:n.*1846A>G | |
| ENST00000683584.1:n.1092A>G | ||
| ENST00000683821.1:c.583A>G | ENSP00000507651.1:p.Ile195Val | |
| ENST00000683839.1:n.1723A>G | ||
| ENST00000684000.1:c.2353A>G | ENSP00000506795.1:p.Ile785Val | |
| ENST00000684188.1:c.2080A>G | ENSP00000507153.1:p.Ile694Val | |
| ENST00000684349.1:c.2455A>G | ENSP00000508067.1:p.Ile819Val | |
| ENST00000684361.1:c.2269A>G | ENSP00000507364.1:p.Ile757Val | |
| ENST00000684408.1:c.1912A>G | ENSP00000506837.1:p.Ile638Val | |
| ENST00000684429.1:c.2197A>G | ENSP00000507224.1:p.Ile733Val | |
| ENST00000684464.1:c.2362A>G | ENSP00000508333.1:p.Ile788Val | |
| ENST00000684544.1:c.2188A>G | ENSP00000507337.1:p.Ile730Val | |
| ENST00000684559.1:n.1024A>G | ||
| ENST00000684760.1:c.2536A>G | ENSP00000507696.1:p.Ile846Val | |
| ENST00000684776.1:c.*752A>G | ENSP00000507861.1:n.*752A>G | |
| ENST00000355528.9:c.2269A>G MANE Select | ENSP00000347719.4:p.Ile757Val | |
| ENST00000355528.8:c.2269A>G | ENSP00000347719.4:p.Ile757Val | |
| ENST00000539345.6:c.2269A>G | ENSP00000440671.2:p.Ile757Val | |
| ENST00000571618.5:n.447A>G | ||
| ENST00000571796.5:n.927A>G | ||
| ENST00000574422.1:c.583A>G | ENSP00000458599.1:p.Ile195Val | |
| ENST00000574818.5:n.327A>G | ||
| ENST00000574886.1:n.653A>G | ||
| ENST00000574975.5:c.646A>G | ENSP00000461680.1:p.Ile216Val | |
| ENST00000576760.5:c.583A>G | ENSP00000460949.1:p.Ile195Val | |
| NM_005993.4:c.2269A>G | NP_005984.3:p.Ile757Val | |
| XM_005256396.3:c.2218A>G | XP_005256453.1:p.Ile740Val | |
| XM_005256399.3:c.985A>G | XP_005256456.1:p.Ile329Val | |
| XM_005256400.3:c.583A>G | XP_005256457.1:p.Ile195Val | |
| XM_005256401.3:c.583A>G | XP_005256458.1:p.Ile195Val | |
| XM_005256402.3:c.583A>G | XP_005256459.1:p.Ile195Val | |
| XM_005256403.3:c.583A>G | XP_005256460.1:p.Ile195Val | |
| XM_005256404.3:c.583A>G | XP_005256461.1:p.Ile195Val | |
| XM_006722290.2:c.2188A>G | XP_006722353.1:p.Ile730Val | |
| XM_006722291.2:c.973A>G | XP_006722354.1:p.Ile325Val | |
| XM_006722292.2:c.583A>G | XP_006722355.1:p.Ile195Val | |
| XM_011523589.1:c.1924A>G | XP_011521891.1:p.Ile642Val | |
| XM_011523590.1:c.1912A>G | XP_011521892.1:p.Ile638Val | |
| XM_011523591.1:c.1909A>G | XP_011521893.1:p.Ile637Val | |
| XM_011523592.1:c.1822A>G | XP_011521894.1:p.Ile608Val | |
| XM_011523593.1:c.1516A>G | XP_011521895.1:p.Ile506Val | |
| XM_011523594.1:c.997A>G | XP_011521896.1:p.Ile333Val | |
| XM_011523595.1:c.964A>G | XP_011521897.1:p.Ile322Val | |
| XM_011523596.1:c.2187A>G | XP_011521898.1:p.Ter729Trp | |
| XM_011523597.1:c.730A>G | XP_011521899.1:p.Ile244Val | |
| XM_011523598.1:c.727A>G | XP_011521900.1:p.Ile243Val | |
| XM_011523599.1:c.721A>G | XP_011521901.1:p.Ile241Val | |
| XM_011523600.1:c.583A>G | XP_011521902.1:p.Ile195Val | |
| XR_430033.2:n.2377A>G | ||
| XM_005256396.4:c.2218A>G | XP_005256453.1:p.Ile740Val | |
| XM_005256399.5:c.985A>G | XP_005256456.1:p.Ile329Val | |
| XM_005256404.4:c.583A>G | XP_005256461.1:p.Ile195Val | |
| XM_006722291.4:c.973A>G | XP_006722354.1:p.Ile325Val | |
| XM_006722292.3:c.583A>G | XP_006722355.1:p.Ile195Val | |
| XM_011523589.2:c.1924A>G | XP_011521891.1:p.Ile642Val | |
| XM_011523591.2:c.1909A>G | XP_011521893.1:p.Ile637Val | |
| XM_011523593.2:c.1516A>G | XP_011521895.1:p.Ile506Val | |
| XM_011523594.2:c.997A>G | XP_011521896.1:p.Ile333Val | |
| XM_011523595.3:c.964A>G | XP_011521897.1:p.Ile322Val | |
| XM_011523597.2:c.730A>G | XP_011521899.1:p.Ile244Val | |
| XM_011523599.2:c.721A>G | XP_011521901.1:p.Ile241Val | |
| XM_011523600.3:c.583A>G | XP_011521902.1:p.Ile195Val | |
| XM_017024987.1:c.2080A>G | XP_016880476.1:p.Ile694Val | |
| XM_017024989.1:c.631A>G | XP_016880478.1:p.Ile211Val | |
| XM_017024990.2:c.583A>G | XP_016880479.1:p.Ile195Val | |
| XM_024450899.1:c.583A>G | XP_024306667.1:p.Ile195Val | |
| XM_024450900.1:c.583A>G | XP_024306668.1:p.Ile195Val | |
| XM_024450901.1:c.583A>G | XP_024306669.1:p.Ile195Val | |
| XM_024450902.1:c.583A>G | XP_024306670.1:p.Ile195Val | |
| XR_001752597.1:n.2377A>G | ||
| XR_001752598.1:n.2377A>G | ||
| XR_001752599.1:n.2377A>G | ||
| XR_001752600.1:n.2295A>G | ||
| NM_005993.5:c.2269A>G MANE Select | NP_005984.3:p.Ile757Val |