Linked Data
ClinVar Variation Id:
319857
dbSNP Id:
rs766873519
ExAC:
16:56535283 G / A
gnomAD v2:
16-56535283-G-A
gnomAD v3:
16-56501371-G-A
gnomAD v4:
16-56501371-G-A
COSMIC:
COSM703390
PubMed:
PMID:22353939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56501371G>A , CM000678.2:g.56501371G>A | GRCh38 |
| NC_000016.9:g.56535283G>A , CM000678.1:g.56535283G>A | GRCh37 |
| NC_000016.8:g.55092784G>A | NCBI36 |
| NG_009312.1:g.23913C>T | |
| NG_009312.2:g.23654C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1069C>T | ENSP00000454986.2:n.1069C>T | |
| ENST00000562012.2:c.*1055-346C>T | ENSP00000455651.2:n.*1055-346C>T | |
| ENST00000562059.2:n.2239C>T | ||
| ENST00000565781.6:n.2256C>T | ||
| ENST00000565859.2:n.2281C>T | ||
| ENST00000566210.2:n.1309C>T | ||
| ENST00000566410.2:n.2239C>T | ||
| ENST00000566495.2:n.224C>T | ||
| ENST00000568104.6:c.1207C>T | ENSP00000456289.1:p.Arg403Cys | |
| ENST00000569342.6:n.2415C>T | ||
| ENST00000682000.1:n.765C>T | ||
| ENST00000682001.1:n.2236C>T | ||
| ENST00000682005.1:n.1198C>T | ||
| ENST00000682021.1:n.1589C>T | ||
| ENST00000682038.1:c.*471C>T | ENSP00000508404.1:n.*471C>T | |
| ENST00000682047.1:c.1207C>T | ENSP00000507699.1:p.Arg403Cys | |
| ENST00000682088.1:c.*1666C>T | ENSP00000508064.1:n.*1666C>T | |
| ENST00000682096.1:n.2448C>T | ||
| ENST00000682113.1:n.2215C>T | ||
| ENST00000682146.1:n.2239C>T | ||
| ENST00000682187.1:c.*631C>T | ENSP00000507203.1:n.*631C>T | |
| ENST00000682188.1:c.1207C>T | ENSP00000507655.1:p.Arg403Cys | |
| ENST00000682201.1:n.1198C>T | ||
| ENST00000682205.1:c.1207C>T | ENSP00000508377.1:p.Arg403Cys | |
| ENST00000682348.1:c.*256C>T | ENSP00000506965.1:n.*256C>T | |
| ENST00000682360.1:c.610C>T | ENSP00000508007.1:p.Arg204Cys | |
| ENST00000682370.1:n.2448C>T | ||
| ENST00000682420.1:n.1629C>T | ||
| ENST00000682429.1:c.1207C>T | ENSP00000506827.1:p.Arg403Cys | |
| ENST00000682449.1:c.1081-346C>T | ENSP00000507836.1:n.1081-346C>T | |
| ENST00000682470.1:c.1207C>T | ENSP00000507654.1:p.Arg403Cys | |
| ENST00000682473.1:n.1172C>T | ||
| ENST00000682482.1:c.1081C>T | ENSP00000507903.1:p.Arg361Cys | |
| ENST00000682492.1:n.1467C>T | ||
| ENST00000682493.1:c.1207C>T | ENSP00000506778.1:p.Arg403Cys | |
| ENST00000682543.1:c.*631C>T | ENSP00000507592.1:n.*631C>T | |
| ENST00000682561.1:n.1216C>T | ||
| ENST00000682597.1:n.2448C>T | ||
| ENST00000682658.1:c.*239C>T | ENSP00000507773.1:n.*239C>T | |
| ENST00000682705.1:n.2448C>T | ||
| ENST00000682723.1:c.610C>T | ENSP00000507115.1:p.Arg204Cys | |
| ENST00000682735.1:c.*1666C>T | ENSP00000507007.1:n.*1666C>T | |
| ENST00000682737.1:c.610C>T | ENSP00000506876.1:p.Arg204Cys | |
| ENST00000682757.1:n.2448C>T | ||
| ENST00000682855.1:c.1207C>T | ENSP00000507027.1:p.Arg403Cys | |
| ENST00000682857.1:n.1420C>T | ||
| ENST00000682875.1:c.1207C>T | ENSP00000507771.1:p.Arg403Cys | |
| ENST00000682919.1:n.2342C>T | ||
| ENST00000682930.1:c.1132C>T | ENSP00000507981.1:p.Arg378Cys | |
| ENST00000682948.1:n.2239C>T | ||
| ENST00000682960.1:n.2239C>T | ||
| ENST00000683008.1:n.2448C>T | ||
| ENST00000683020.1:c.1207C>T | ENSP00000507944.1:p.Arg403Cys | |
| ENST00000683099.1:n.2448C>T | ||
| ENST00000683170.1:n.1723C>T | ||
| ENST00000683212.1:c.1207C>T | ENSP00000507839.1:p.Arg403Cys | |
| ENST00000683248.1:n.1629C>T | ||
| ENST00000683343.1:n.2233C>T | ||
| ENST00000683347.1:n.1414C>T | ||
| ENST00000683384.1:c.1228C>T | ENSP00000508330.1:n.1228C>T | |
| ENST00000683396.1:n.2448C>T | ||
| ENST00000683410.1:n.1629C>T | ||
| ENST00000683443.1:n.841C>T | ||
| ENST00000683485.1:n.2239C>T | ||
| ENST00000683504.1:n.5589C>T | ||
| ENST00000683533.1:c.*631C>T | ENSP00000508296.1:n.*631C>T | |
| ENST00000683609.1:n.2239C>T | ||
| ENST00000683644.1:c.*256C>T | ENSP00000507914.1:n.*256C>T | |
| ENST00000683660.1:n.1420C>T | ||
| ENST00000683669.1:n.1090C>T | ||
| ENST00000683690.1:c.*1450C>T | ENSP00000508152.1:n.*1450C>T | |
| ENST00000683719.1:n.1190C>T | ||
| ENST00000683757.1:n.1196C>T | ||
| ENST00000683858.1:c.1207C>T | ENSP00000507657.1:p.Arg403Cys | |
| ENST00000683875.1:c.979C>T | ENSP00000507602.1:p.Arg327Cys | |
| ENST00000683904.1:n.2239C>T | ||
| ENST00000683910.1:n.1420C>T | ||
| ENST00000683959.1:c.*256C>T | ENSP00000508309.1:n.*256C>T | |
| ENST00000683976.1:c.*756C>T | ENSP00000507183.1:n.*756C>T | |
| ENST00000683978.1:n.1350C>T | ||
| ENST00000683992.1:c.*847C>T | ENSP00000508144.1:n.*847C>T | |
| ENST00000684020.1:n.1629C>T | ||
| ENST00000684044.1:n.2239C>T | ||
| ENST00000684057.1:n.1997C>T | ||
| ENST00000684076.1:n.1378C>T | ||
| ENST00000684128.1:n.2448C>T | ||
| ENST00000684194.1:n.1629C>T | ||
| ENST00000684205.1:n.2886C>T | ||
| ENST00000684246.1:c.*847C>T | ENSP00000508273.1:n.*847C>T | |
| ENST00000684388.1:c.127C>T | ENSP00000507647.1:p.Arg43Cys | |
| ENST00000684402.1:n.2448C>T | ||
| ENST00000684446.1:n.2239C>T | ||
| ENST00000684531.1:n.1440C>T | ||
| ENST00000684635.1:c.1102C>T | ENSP00000507335.1:p.Arg368Cys | |
| ENST00000684640.1:c.1213C>T | ENSP00000507292.1:n.1213C>T | |
| ENST00000684673.1:c.1207C>T | ENSP00000507746.1:p.Arg403Cys | |
| ENST00000684684.1:c.*631C>T | ENSP00000507026.1:n.*631C>T | |
| ENST00000245157.11:c.1207C>T MANE Select | ENSP00000245157.5:p.Arg403Cys | |
| ENST00000245157.9:c.1207C>T | ENSP00000245157.5:p.Arg403Cys | |
| ENST00000562012.1:c.599C>T | ENSP00000455651.1:n.599C>T | |
| ENST00000562059.1:n.436C>T | ||
| ENST00000565781.5:n.2256C>T | ||
| ENST00000566495.1:n.224C>T | ||
| ENST00000568104.5:c.1207C>T | ENSP00000456289.1:p.Arg403Cys | |
| NM_031885.3:c.1207C>T | NP_114091.3:p.Arg403Cys | |
| XM_005256080.1:c.1207C>T | XP_005256137.1:p.Arg403Cys | |
| XM_005256081.1:c.1207C>T | XP_005256138.1:p.Arg403Cys | |
| XM_005256082.1:c.1207C>T | XP_005256139.1:p.Arg403Cys | |
| XR_933378.1:n.1440C>T | ||
| XR_933379.1:n.1440C>T | ||
| XR_933380.1:n.1440C>T | ||
| XM_005256080.2:c.1207C>T | XP_005256137.1:p.Arg403Cys | |
| XR_001751958.1:n.1440C>T | ||
| XR_001751959.2:n.1440C>T | ||
| XR_001751960.1:n.1440C>T | ||
| XR_001751961.1:n.1440C>T | ||
| XR_933380.2:n.1440C>T | ||
| NM_031885.4:c.1207C>T | NP_114091.3:p.Arg403Cys | |
| NM_001377456.1:c.1207C>T | NP_001364385.1:p.Arg403Cys | |
| NM_031885.5:c.1207C>T MANE Select | NP_114091.4:p.Arg403Cys | |
| NR_165293.1:n.1369C>T | ||
| NR_165294.1:n.1369C>T | ||
| NR_165295.1:n.1369C>T | ||
| NR_165296.1:n.1369C>T | ||
| NR_165297.1:n.1369C>T |