Linked Data
ClinVar Variation Id:
1034236
dbSNP Id:
rs374216515
ExAC:
17:80882827 C / T
gnomAD v2:
17-80882827-C-T
gnomAD v3:
17-82924951-C-T
gnomAD v4:
17-82924951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82924951C>T , CM000679.2:g.82924951C>T | GRCh38 |
| NC_000017.10:g.80882827C>T , CM000679.1:g.80882827C>T | GRCh37 |
| NC_000017.9:g.78476116C>T | NCBI36 |
| NG_011721.1:g.177888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1481C>T | ||
| ENST00000576677.6:n.1402C>T | ||
| ENST00000681983.1:n.2409C>T | ||
| ENST00000682099.1:n.1170C>T | ||
| ENST00000682213.1:c.*244C>T | ENSP00000508166.1:n.*244C>T | |
| ENST00000682315.1:c.587C>T | ENSP00000507232.1:p.Thr196Met | |
| ENST00000682479.1:c.2363C>T | ENSP00000508214.1:p.Thr788Met | |
| ENST00000682610.1:n.1513C>T | ||
| ENST00000682654.1:c.*244C>T | ENSP00000507412.1:n.*244C>T | |
| ENST00000682722.1:c.2222C>T | ENSP00000508364.1:p.Thr741Met | |
| ENST00000683041.1:c.*244C>T | ENSP00000506994.1:n.*244C>T | |
| ENST00000683184.1:c.*1926C>T | ENSP00000507757.1:n.*1926C>T | |
| ENST00000683282.1:c.2189C>T | ENSP00000506913.1:p.Thr730Met | |
| ENST00000683444.1:c.*1850C>T | ENSP00000507553.1:n.*1850C>T | |
| ENST00000683584.1:n.1096C>T | ||
| ENST00000683821.1:c.587C>T | ENSP00000507651.1:p.Thr196Met | |
| ENST00000683839.1:n.1727C>T | ||
| ENST00000684000.1:c.2357C>T | ENSP00000506795.1:p.Thr786Met | |
| ENST00000684188.1:c.2084C>T | ENSP00000507153.1:p.Thr695Met | |
| ENST00000684349.1:c.2459C>T | ENSP00000508067.1:p.Thr820Met | |
| ENST00000684361.1:c.2273C>T | ENSP00000507364.1:p.Thr758Met | |
| ENST00000684408.1:c.1916C>T | ENSP00000506837.1:p.Thr639Met | |
| ENST00000684429.1:c.2201C>T | ENSP00000507224.1:p.Thr734Met | |
| ENST00000684464.1:c.2366C>T | ENSP00000508333.1:p.Thr789Met | |
| ENST00000684544.1:c.2192C>T | ENSP00000507337.1:p.Thr731Met | |
| ENST00000684559.1:n.1028C>T | ||
| ENST00000684760.1:c.2540C>T | ENSP00000507696.1:p.Thr847Met | |
| ENST00000684776.1:c.*756C>T | ENSP00000507861.1:n.*756C>T | |
| ENST00000355528.9:c.2273C>T MANE Select | ENSP00000347719.4:p.Thr758Met | |
| ENST00000355528.8:c.2273C>T | ENSP00000347719.4:p.Thr758Met | |
| ENST00000539345.6:c.2273C>T | ENSP00000440671.2:p.Thr758Met | |
| ENST00000571618.5:n.451C>T | ||
| ENST00000571796.5:n.931C>T | ||
| ENST00000574422.1:c.587C>T | ENSP00000458599.1:p.Thr196Met | |
| ENST00000574818.5:n.331C>T | ||
| ENST00000574886.1:n.657C>T | ||
| ENST00000574975.5:c.650C>T | ENSP00000461680.1:p.Thr217Met | |
| ENST00000576760.5:c.587C>T | ENSP00000460949.1:p.Thr196Met | |
| NM_005993.4:c.2273C>T | NP_005984.3:p.Thr758Met | |
| XM_005256396.3:c.2222C>T | XP_005256453.1:p.Thr741Met | |
| XM_005256399.3:c.989C>T | XP_005256456.1:p.Thr330Met | |
| XM_005256400.3:c.587C>T | XP_005256457.1:p.Thr196Met | |
| XM_005256401.3:c.587C>T | XP_005256458.1:p.Thr196Met | |
| XM_005256402.3:c.587C>T | XP_005256459.1:p.Thr196Met | |
| XM_005256403.3:c.587C>T | XP_005256460.1:p.Thr196Met | |
| XM_005256404.3:c.587C>T | XP_005256461.1:p.Thr196Met | |
| XM_006722290.2:c.2192C>T | XP_006722353.1:p.Thr731Met | |
| XM_006722291.2:c.977C>T | XP_006722354.1:p.Thr326Met | |
| XM_006722292.2:c.587C>T | XP_006722355.1:p.Thr196Met | |
| XM_011523589.1:c.1928C>T | XP_011521891.1:p.Thr643Met | |
| XM_011523590.1:c.1916C>T | XP_011521892.1:p.Thr639Met | |
| XM_011523591.1:c.1913C>T | XP_011521893.1:p.Thr638Met | |
| XM_011523592.1:c.1826C>T | XP_011521894.1:p.Thr609Met | |
| XM_011523593.1:c.1520C>T | XP_011521895.1:p.Thr507Met | |
| XM_011523594.1:c.1001C>T | XP_011521896.1:p.Thr334Met | |
| XM_011523595.1:c.968C>T | XP_011521897.1:p.Thr323Met | |
| XM_011523596.1:c.*4C>T | XP_011521898.1:n.*4C>T | |
| XM_011523597.1:c.734C>T | XP_011521899.1:p.Thr245Met | |
| XM_011523598.1:c.731C>T | XP_011521900.1:p.Thr244Met | |
| XM_011523599.1:c.725C>T | XP_011521901.1:p.Thr242Met | |
| XM_011523600.1:c.587C>T | XP_011521902.1:p.Thr196Met | |
| XR_430033.2:n.2381C>T | ||
| XM_005256396.4:c.2222C>T | XP_005256453.1:p.Thr741Met | |
| XM_005256399.5:c.989C>T | XP_005256456.1:p.Thr330Met | |
| XM_005256404.4:c.587C>T | XP_005256461.1:p.Thr196Met | |
| XM_006722291.4:c.977C>T | XP_006722354.1:p.Thr326Met | |
| XM_006722292.3:c.587C>T | XP_006722355.1:p.Thr196Met | |
| XM_011523589.2:c.1928C>T | XP_011521891.1:p.Thr643Met | |
| XM_011523591.2:c.1913C>T | XP_011521893.1:p.Thr638Met | |
| XM_011523593.2:c.1520C>T | XP_011521895.1:p.Thr507Met | |
| XM_011523594.2:c.1001C>T | XP_011521896.1:p.Thr334Met | |
| XM_011523595.3:c.968C>T | XP_011521897.1:p.Thr323Met | |
| XM_011523597.2:c.734C>T | XP_011521899.1:p.Thr245Met | |
| XM_011523599.2:c.725C>T | XP_011521901.1:p.Thr242Met | |
| XM_011523600.3:c.587C>T | XP_011521902.1:p.Thr196Met | |
| XM_017024987.1:c.2084C>T | XP_016880476.1:p.Thr695Met | |
| XM_017024989.1:c.635C>T | XP_016880478.1:p.Thr212Met | |
| XM_017024990.2:c.587C>T | XP_016880479.1:p.Thr196Met | |
| XM_024450899.1:c.587C>T | XP_024306667.1:p.Thr196Met | |
| XM_024450900.1:c.587C>T | XP_024306668.1:p.Thr196Met | |
| XM_024450901.1:c.587C>T | XP_024306669.1:p.Thr196Met | |
| XM_024450902.1:c.587C>T | XP_024306670.1:p.Thr196Met | |
| XR_001752597.1:n.2381C>T | ||
| XR_001752598.1:n.2381C>T | ||
| XR_001752599.1:n.2381C>T | ||
| XR_001752600.1:n.2299C>T | ||
| NM_005993.5:c.2273C>T MANE Select | NP_005984.3:p.Thr758Met |