Linked Data
ClinVar Variation Id:
1691218
dbSNP Id:
rs547091970
ExAC:
17:80882847 C / T
gnomAD v2:
17-80882847-C-T
gnomAD v3:
17-82924971-C-T
gnomAD v4:
17-82924971-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82924971C>T , CM000679.2:g.82924971C>T | GRCh38 |
| NC_000017.10:g.80882847C>T , CM000679.1:g.80882847C>T | GRCh37 |
| NC_000017.9:g.78476136C>T | NCBI36 |
| NG_011721.1:g.177908C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1501C>T | ||
| ENST00000576677.6:n.1422C>T | ||
| ENST00000681983.1:n.2429C>T | ||
| ENST00000682099.1:n.1190C>T | ||
| ENST00000682213.1:c.*264C>T | ENSP00000508166.1:n.*264C>T | |
| ENST00000682315.1:c.607C>T | ENSP00000507232.1:p.Arg203Trp | |
| ENST00000682479.1:c.2383C>T | ENSP00000508214.1:p.Arg795Trp | |
| ENST00000682610.1:n.1533C>T | ||
| ENST00000682654.1:c.*264C>T | ENSP00000507412.1:n.*264C>T | |
| ENST00000682722.1:c.2242C>T | ENSP00000508364.1:p.Arg748Trp | |
| ENST00000683041.1:c.*264C>T | ENSP00000506994.1:n.*264C>T | |
| ENST00000683184.1:c.*1946C>T | ENSP00000507757.1:n.*1946C>T | |
| ENST00000683282.1:c.2209C>T | ENSP00000506913.1:p.Arg737Trp | |
| ENST00000683444.1:c.*1870C>T | ENSP00000507553.1:n.*1870C>T | |
| ENST00000683584.1:n.1116C>T | ||
| ENST00000683821.1:c.607C>T | ENSP00000507651.1:p.Arg203Trp | |
| ENST00000683839.1:n.1747C>T | ||
| ENST00000684000.1:c.2377C>T | ENSP00000506795.1:p.Arg793Trp | |
| ENST00000684188.1:c.2104C>T | ENSP00000507153.1:p.Arg702Trp | |
| ENST00000684349.1:c.2479C>T | ENSP00000508067.1:p.Arg827Trp | |
| ENST00000684361.1:c.2293C>T | ENSP00000507364.1:p.Arg765Trp | |
| ENST00000684408.1:c.1936C>T | ENSP00000506837.1:p.Arg646Trp | |
| ENST00000684429.1:c.2221C>T | ENSP00000507224.1:p.Arg741Trp | |
| ENST00000684464.1:c.2386C>T | ENSP00000508333.1:p.Arg796Trp | |
| ENST00000684544.1:c.2212C>T | ENSP00000507337.1:p.Arg738Trp | |
| ENST00000684559.1:n.1048C>T | ||
| ENST00000684760.1:c.2560C>T | ENSP00000507696.1:p.Arg854Trp | |
| ENST00000684776.1:c.*776C>T | ENSP00000507861.1:n.*776C>T | |
| ENST00000355528.9:c.2293C>T MANE Select | ENSP00000347719.4:p.Arg765Trp | |
| ENST00000355528.8:c.2293C>T | ENSP00000347719.4:p.Arg765Trp | |
| ENST00000539345.6:c.2293C>T | ENSP00000440671.2:p.Arg765Trp | |
| ENST00000571618.5:n.471C>T | ||
| ENST00000571796.5:n.951C>T | ||
| ENST00000574422.1:c.607C>T | ENSP00000458599.1:p.Arg203Trp | |
| ENST00000574818.5:n.351C>T | ||
| ENST00000574886.1:n.677C>T | ||
| ENST00000574975.5:c.670C>T | ENSP00000461680.1:p.Arg224Trp | |
| ENST00000576760.5:c.607C>T | ENSP00000460949.1:p.Arg203Trp | |
| NM_005993.4:c.2293C>T | NP_005984.3:p.Arg765Trp | |
| XM_005256396.3:c.2242C>T | XP_005256453.1:p.Arg748Trp | |
| XM_005256399.3:c.1009C>T | XP_005256456.1:p.Arg337Trp | |
| XM_005256400.3:c.607C>T | XP_005256457.1:p.Arg203Trp | |
| XM_005256401.3:c.607C>T | XP_005256458.1:p.Arg203Trp | |
| XM_005256402.3:c.607C>T | XP_005256459.1:p.Arg203Trp | |
| XM_005256403.3:c.607C>T | XP_005256460.1:p.Arg203Trp | |
| XM_005256404.3:c.607C>T | XP_005256461.1:p.Arg203Trp | |
| XM_006722290.2:c.2212C>T | XP_006722353.1:p.Arg738Trp | |
| XM_006722291.2:c.997C>T | XP_006722354.1:p.Arg333Trp | |
| XM_006722292.2:c.607C>T | XP_006722355.1:p.Arg203Trp | |
| XM_011523589.1:c.1948C>T | XP_011521891.1:p.Arg650Trp | |
| XM_011523590.1:c.1936C>T | XP_011521892.1:p.Arg646Trp | |
| XM_011523591.1:c.1933C>T | XP_011521893.1:p.Arg645Trp | |
| XM_011523592.1:c.1846C>T | XP_011521894.1:p.Arg616Trp | |
| XM_011523593.1:c.1540C>T | XP_011521895.1:p.Arg514Trp | |
| XM_011523594.1:c.1021C>T | XP_011521896.1:p.Arg341Trp | |
| XM_011523595.1:c.988C>T | XP_011521897.1:p.Arg330Trp | |
| XM_011523596.1:c.*24C>T | XP_011521898.1:n.*24C>T | |
| XM_011523597.1:c.754C>T | XP_011521899.1:p.Arg252Trp | |
| XM_011523598.1:c.751C>T | XP_011521900.1:p.Arg251Trp | |
| XM_011523599.1:c.745C>T | XP_011521901.1:p.Arg249Trp | |
| XM_011523600.1:c.607C>T | XP_011521902.1:p.Arg203Trp | |
| XR_430033.2:n.2401C>T | ||
| XM_005256396.4:c.2242C>T | XP_005256453.1:p.Arg748Trp | |
| XM_005256399.5:c.1009C>T | XP_005256456.1:p.Arg337Trp | |
| XM_005256404.4:c.607C>T | XP_005256461.1:p.Arg203Trp | |
| XM_006722291.4:c.997C>T | XP_006722354.1:p.Arg333Trp | |
| XM_006722292.3:c.607C>T | XP_006722355.1:p.Arg203Trp | |
| XM_011523589.2:c.1948C>T | XP_011521891.1:p.Arg650Trp | |
| XM_011523591.2:c.1933C>T | XP_011521893.1:p.Arg645Trp | |
| XM_011523593.2:c.1540C>T | XP_011521895.1:p.Arg514Trp | |
| XM_011523594.2:c.1021C>T | XP_011521896.1:p.Arg341Trp | |
| XM_011523595.3:c.988C>T | XP_011521897.1:p.Arg330Trp | |
| XM_011523597.2:c.754C>T | XP_011521899.1:p.Arg252Trp | |
| XM_011523599.2:c.745C>T | XP_011521901.1:p.Arg249Trp | |
| XM_011523600.3:c.607C>T | XP_011521902.1:p.Arg203Trp | |
| XM_017024987.1:c.2104C>T | XP_016880476.1:p.Arg702Trp | |
| XM_017024989.1:c.655C>T | XP_016880478.1:p.Arg219Trp | |
| XM_017024990.2:c.607C>T | XP_016880479.1:p.Arg203Trp | |
| XM_024450899.1:c.607C>T | XP_024306667.1:p.Arg203Trp | |
| XM_024450900.1:c.607C>T | XP_024306668.1:p.Arg203Trp | |
| XM_024450901.1:c.607C>T | XP_024306669.1:p.Arg203Trp | |
| XM_024450902.1:c.607C>T | XP_024306670.1:p.Arg203Trp | |
| XR_001752597.1:n.2401C>T | ||
| XR_001752598.1:n.2401C>T | ||
| XR_001752599.1:n.2401C>T | ||
| XR_001752600.1:n.2319C>T | ||
| NM_005993.5:c.2293C>T MANE Select | NP_005984.3:p.Arg765Trp |