Linked Data
ClinVar Variation Id:
740006
dbSNP Id:
rs186699341
ExAC:
17:80882881 C / T
gnomAD v2:
17-80882881-C-T
gnomAD v3:
17-82925005-C-T
gnomAD v4:
17-82925005-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82925005C>T , CM000679.2:g.82925005C>T | GRCh38 |
| NC_000017.10:g.80882881C>T , CM000679.1:g.80882881C>T | GRCh37 |
| NC_000017.9:g.78476170C>T | NCBI36 |
| NG_011721.1:g.177942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1535C>T | ||
| ENST00000576677.6:n.1456C>T | ||
| ENST00000681983.1:n.2463C>T | ||
| ENST00000682099.1:n.1224C>T | ||
| ENST00000682213.1:c.*298C>T | ENSP00000508166.1:n.*298C>T | |
| ENST00000682315.1:c.641C>T | ENSP00000507232.1:p.Ser214Leu | |
| ENST00000682479.1:c.2417C>T | ENSP00000508214.1:p.Ser806Leu | |
| ENST00000682610.1:n.1567C>T | ||
| ENST00000682654.1:c.*298C>T | ENSP00000507412.1:n.*298C>T | |
| ENST00000682722.1:c.2276C>T | ENSP00000508364.1:p.Ser759Leu | |
| ENST00000683041.1:c.*298C>T | ENSP00000506994.1:n.*298C>T | |
| ENST00000683184.1:c.*1980C>T | ENSP00000507757.1:n.*1980C>T | |
| ENST00000683282.1:c.2243C>T | ENSP00000506913.1:p.Ser748Leu | |
| ENST00000683444.1:c.*1904C>T | ENSP00000507553.1:n.*1904C>T | |
| ENST00000683584.1:n.1150C>T | ||
| ENST00000683821.1:c.641C>T | ENSP00000507651.1:p.Ser214Leu | |
| ENST00000683839.1:n.1781C>T | ||
| ENST00000684000.1:c.2411C>T | ENSP00000506795.1:p.Ser804Leu | |
| ENST00000684188.1:c.2138C>T | ENSP00000507153.1:p.Ser713Leu | |
| ENST00000684349.1:c.2513C>T | ENSP00000508067.1:p.Ser838Leu | |
| ENST00000684361.1:c.2327C>T | ENSP00000507364.1:p.Ser776Leu | |
| ENST00000684408.1:c.1970C>T | ENSP00000506837.1:p.Ser657Leu | |
| ENST00000684429.1:c.2255C>T | ENSP00000507224.1:p.Ser752Leu | |
| ENST00000684464.1:c.2420C>T | ENSP00000508333.1:p.Ser807Leu | |
| ENST00000684544.1:c.2246C>T | ENSP00000507337.1:p.Ser749Leu | |
| ENST00000684559.1:n.1082C>T | ||
| ENST00000684760.1:c.2594C>T | ENSP00000507696.1:p.Ser865Leu | |
| ENST00000684776.1:c.*810C>T | ENSP00000507861.1:n.*810C>T | |
| ENST00000355528.9:c.2327C>T MANE Select | ENSP00000347719.4:p.Ser776Leu | |
| ENST00000355528.8:c.2327C>T | ENSP00000347719.4:p.Ser776Leu | |
| ENST00000539345.6:c.2327C>T | ENSP00000440671.2:p.Ser776Leu | |
| ENST00000571618.5:n.505C>T | ||
| ENST00000571796.5:n.985C>T | ||
| ENST00000574422.1:c.641C>T | ENSP00000458599.1:p.Ser214Leu | |
| ENST00000574818.5:n.385C>T | ||
| ENST00000574886.1:n.711C>T | ||
| ENST00000574975.5:c.704C>T | ENSP00000461680.1:p.Ser235Leu | |
| ENST00000576760.5:c.641C>T | ENSP00000460949.1:p.Ser214Leu | |
| NM_005993.4:c.2327C>T | NP_005984.3:p.Ser776Leu | |
| XM_005256396.3:c.2276C>T | XP_005256453.1:p.Ser759Leu | |
| XM_005256399.3:c.1043C>T | XP_005256456.1:p.Ser348Leu | |
| XM_005256400.3:c.641C>T | XP_005256457.1:p.Ser214Leu | |
| XM_005256401.3:c.641C>T | XP_005256458.1:p.Ser214Leu | |
| XM_005256402.3:c.641C>T | XP_005256459.1:p.Ser214Leu | |
| XM_005256403.3:c.641C>T | XP_005256460.1:p.Ser214Leu | |
| XM_005256404.3:c.641C>T | XP_005256461.1:p.Ser214Leu | |
| XM_006722290.2:c.2246C>T | XP_006722353.1:p.Ser749Leu | |
| XM_006722291.2:c.1031C>T | XP_006722354.1:p.Ser344Leu | |
| XM_006722292.2:c.641C>T | XP_006722355.1:p.Ser214Leu | |
| XM_011523589.1:c.1982C>T | XP_011521891.1:p.Ser661Leu | |
| XM_011523590.1:c.1970C>T | XP_011521892.1:p.Ser657Leu | |
| XM_011523591.1:c.1967C>T | XP_011521893.1:p.Ser656Leu | |
| XM_011523592.1:c.1880C>T | XP_011521894.1:p.Ser627Leu | |
| XM_011523593.1:c.1574C>T | XP_011521895.1:p.Ser525Leu | |
| XM_011523594.1:c.1055C>T | XP_011521896.1:p.Ser352Leu | |
| XM_011523595.1:c.1022C>T | XP_011521897.1:p.Ser341Leu | |
| XM_011523596.1:c.*58C>T | XP_011521898.1:n.*58C>T | |
| XM_011523597.1:c.788C>T | XP_011521899.1:p.Ser263Leu | |
| XM_011523598.1:c.785C>T | XP_011521900.1:p.Ser262Leu | |
| XM_011523599.1:c.779C>T | XP_011521901.1:p.Ser260Leu | |
| XM_011523600.1:c.641C>T | XP_011521902.1:p.Ser214Leu | |
| XR_430033.2:n.2435C>T | ||
| XM_005256396.4:c.2276C>T | XP_005256453.1:p.Ser759Leu | |
| XM_005256399.5:c.1043C>T | XP_005256456.1:p.Ser348Leu | |
| XM_005256404.4:c.641C>T | XP_005256461.1:p.Ser214Leu | |
| XM_006722291.4:c.1031C>T | XP_006722354.1:p.Ser344Leu | |
| XM_006722292.3:c.641C>T | XP_006722355.1:p.Ser214Leu | |
| XM_011523589.2:c.1982C>T | XP_011521891.1:p.Ser661Leu | |
| XM_011523591.2:c.1967C>T | XP_011521893.1:p.Ser656Leu | |
| XM_011523593.2:c.1574C>T | XP_011521895.1:p.Ser525Leu | |
| XM_011523594.2:c.1055C>T | XP_011521896.1:p.Ser352Leu | |
| XM_011523595.3:c.1022C>T | XP_011521897.1:p.Ser341Leu | |
| XM_011523597.2:c.788C>T | XP_011521899.1:p.Ser263Leu | |
| XM_011523599.2:c.779C>T | XP_011521901.1:p.Ser260Leu | |
| XM_011523600.3:c.641C>T | XP_011521902.1:p.Ser214Leu | |
| XM_017024987.1:c.2138C>T | XP_016880476.1:p.Ser713Leu | |
| XM_017024989.1:c.689C>T | XP_016880478.1:p.Ser230Leu | |
| XM_017024990.2:c.641C>T | XP_016880479.1:p.Ser214Leu | |
| XM_024450899.1:c.641C>T | XP_024306667.1:p.Ser214Leu | |
| XM_024450900.1:c.641C>T | XP_024306668.1:p.Ser214Leu | |
| XM_024450901.1:c.641C>T | XP_024306669.1:p.Ser214Leu | |
| XM_024450902.1:c.641C>T | XP_024306670.1:p.Ser214Leu | |
| XR_001752597.1:n.2435C>T | ||
| XR_001752598.1:n.2435C>T | ||
| XR_001752599.1:n.2435C>T | ||
| XR_001752600.1:n.2353C>T | ||
| NM_005993.5:c.2327C>T MANE Select | NP_005984.3:p.Ser776Leu |