Linked Data
ClinVar Variation Id:
319852
dbSNP Id:
rs200021475
ExAC:
16:56530895 G / A
gnomAD v2:
16-56530895-G-A
gnomAD v3:
16-56496983-G-A
gnomAD v4:
16-56496983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56496983G>A , CM000678.2:g.56496983G>A | GRCh38 |
| NC_000016.9:g.56530895G>A , CM000678.1:g.56530895G>A | GRCh37 |
| NC_000016.8:g.55088396G>A | NCBI36 |
| NG_009312.1:g.28301C>T | |
| NG_009312.2:g.28042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1881C>T | ENSP00000454986.2:n.1881C>T | |
| ENST00000562813.2:n.3381C>T | ||
| ENST00000564459.6:n.621C>T | ||
| ENST00000565781.6:n.5425C>T | ||
| ENST00000565859.2:n.2968C>T | ||
| ENST00000566210.2:n.2323C>T | ||
| ENST00000566410.2:n.5408C>T | ||
| ENST00000566452.2:n.3017C>T | ||
| ENST00000566495.2:n.863C>T | ||
| ENST00000568104.6:c.1756C>T | ENSP00000456289.1:p.Arg586Cys | |
| ENST00000569192.6:n.999C>T | ||
| ENST00000618027.2:n.673C>T | ||
| ENST00000682000.1:n.1452C>T | ||
| ENST00000682001.1:n.2923C>T | ||
| ENST00000682005.1:n.1885C>T | ||
| ENST00000682038.1:c.*1283C>T | ENSP00000508404.1:n.*1283C>T | |
| ENST00000682047.1:c.1894C>T | ENSP00000507699.1:p.Arg632Cys | |
| ENST00000682088.1:c.*4835C>T | ENSP00000508064.1:n.*4835C>T | |
| ENST00000682096.1:n.4344C>T | ||
| ENST00000682113.1:n.4111C>T | ||
| ENST00000682146.1:n.3051C>T | ||
| ENST00000682187.1:c.*1318C>T | ENSP00000507203.1:n.*1318C>T | |
| ENST00000682188.1:c.1939C>T | ENSP00000507655.1:p.Arg647Cys | |
| ENST00000682201.1:n.1885C>T | ||
| ENST00000682205.1:c.1894C>T | ENSP00000508377.1:p.Arg632Cys | |
| ENST00000682348.1:c.*943C>T | ENSP00000506965.1:n.*943C>T | |
| ENST00000682360.1:c.1297C>T | ENSP00000508007.1:p.Arg433Cys | |
| ENST00000682370.1:n.3260C>T | ||
| ENST00000682420.1:n.2441C>T | ||
| ENST00000682429.1:c.*563C>T | ENSP00000506827.1:n.*563C>T | |
| ENST00000682449.1:c.*645C>T | ENSP00000507836.1:n.*645C>T | |
| ENST00000682470.1:c.1894C>T | ENSP00000507654.1:p.Arg632Cys | |
| ENST00000682473.1:n.1859C>T | ||
| ENST00000682482.1:c.1768C>T | ENSP00000507903.1:p.Arg590Cys | |
| ENST00000682492.1:n.1982C>T | ||
| ENST00000682493.1:c.*489C>T | ENSP00000506778.1:n.*489C>T | |
| ENST00000682543.1:c.*1318C>T | ENSP00000507592.1:n.*1318C>T | |
| ENST00000682597.1:n.4081C>T | ||
| ENST00000682623.1:n.495C>T | ||
| ENST00000682658.1:c.*926C>T | ENSP00000507773.1:n.*926C>T | |
| ENST00000682705.1:n.2963C>T | ||
| ENST00000682723.1:c.1297C>T | ENSP00000507115.1:p.Arg433Cys | |
| ENST00000682735.1:c.*3562C>T | ENSP00000507007.1:n.*3562C>T | |
| ENST00000682737.1:c.1297C>T | ENSP00000506876.1:p.Arg433Cys | |
| ENST00000682757.1:n.3587C>T | ||
| ENST00000682855.1:c.1894C>T | ENSP00000507027.1:p.Arg632Cys | |
| ENST00000682875.1:c.1894C>T | ENSP00000507771.1:p.Arg632Cys | |
| ENST00000682930.1:c.1819C>T | ENSP00000507981.1:p.Arg607Cys | |
| ENST00000682948.1:n.2926C>T | ||
| ENST00000682960.1:n.4135C>T | ||
| ENST00000683008.1:n.5290C>T | ||
| ENST00000683020.1:c.*435C>T | ENSP00000507944.1:n.*435C>T | |
| ENST00000683099.1:n.3923C>T | ||
| ENST00000683170.1:n.3619C>T | ||
| ENST00000683212.1:c.*435C>T | ENSP00000507839.1:n.*435C>T | |
| ENST00000683248.1:n.3852C>T | ||
| ENST00000683343.1:n.2748C>T | ||
| ENST00000683347.1:n.2101C>T | ||
| ENST00000683384.1:c.1915C>T | ENSP00000508330.1:n.1915C>T | |
| ENST00000683396.1:n.4671C>T | ||
| ENST00000683410.1:n.2316C>T | ||
| ENST00000683443.1:n.1528C>T | ||
| ENST00000683485.1:n.4462C>T | ||
| ENST00000683504.1:n.7485C>T | ||
| ENST00000683533.1:c.*1318C>T | ENSP00000508296.1:n.*1318C>T | |
| ENST00000683609.1:n.3963C>T | ||
| ENST00000683644.1:c.*1068C>T | ENSP00000507914.1:n.*1068C>T | |
| ENST00000683660.1:n.2107C>T | ||
| ENST00000683669.1:n.1777C>T | ||
| ENST00000683690.1:c.*3346C>T | ENSP00000508152.1:n.*3346C>T | |
| ENST00000683719.1:n.1877C>T | ||
| ENST00000683757.1:n.1883C>T | ||
| ENST00000683858.1:c.1846C>T | ENSP00000507657.1:p.Arg616Cys | |
| ENST00000683875.1:c.1666C>T | ENSP00000507602.1:p.Arg556Cys | |
| ENST00000683904.1:n.4199C>T | ||
| ENST00000683910.1:n.4589C>T | ||
| ENST00000683959.1:c.*943C>T | ENSP00000508309.1:n.*943C>T | |
| ENST00000683976.1:c.*1443C>T | ENSP00000507183.1:n.*1443C>T | |
| ENST00000683978.1:n.2037C>T | ||
| ENST00000683992.1:c.*1534C>T | ENSP00000508144.1:n.*1534C>T | |
| ENST00000684020.1:n.2316C>T | ||
| ENST00000684044.1:n.2882C>T | ||
| ENST00000684057.1:n.2812C>T | ||
| ENST00000684076.1:n.3274C>T | ||
| ENST00000684128.1:n.3462C>T | ||
| ENST00000684194.1:n.3525C>T | ||
| ENST00000684205.1:n.3573C>T | ||
| ENST00000684246.1:c.*1534C>T | ENSP00000508273.1:n.*1534C>T | |
| ENST00000684388.1:c.814C>T | ENSP00000507647.1:p.Arg272Cys | |
| ENST00000684402.1:n.3135C>T | ||
| ENST00000684446.1:n.3378C>T | ||
| ENST00000684531.1:n.3336C>T | ||
| ENST00000684635.1:c.1789C>T | ENSP00000507335.1:p.Arg597Cys | |
| ENST00000684640.1:c.1856C>T | ENSP00000507292.1:n.1856C>T | |
| ENST00000684673.1:c.*489C>T | ENSP00000507746.1:n.*489C>T | |
| ENST00000684684.1:c.*1146C>T | ENSP00000507026.1:n.*1146C>T | |
| ENST00000245157.11:c.1894C>T MANE Select | ENSP00000245157.5:p.Arg632Cys | |
| ENST00000245157.9:c.1894C>T | ENSP00000245157.5:p.Arg632Cys | |
| ENST00000562813.1:n.3381C>T | ||
| ENST00000564459.5:c.157C>T | ENSP00000463731.1:p.Arg53Cys | |
| ENST00000565781.5:n.5425C>T | ||
| ENST00000568104.5:c.1756C>T | ENSP00000456289.1:p.Arg586Cys | |
| ENST00000569192.5:n.568C>T | ||
| NM_031885.3:c.1894C>T | NP_114091.3:p.Arg632Cys | |
| XM_005256080.1:c.1894C>T | XP_005256137.1:p.Arg632Cys | |
| XR_933378.1:n.1955C>T | ||
| XM_005256080.2:c.1894C>T | XP_005256137.1:p.Arg632Cys | |
| XR_001751958.1:n.2255C>T | ||
| XR_001751959.2:n.2252C>T | ||
| XR_001751960.1:n.1955C>T | ||
| XR_001751961.1:n.1955C>T | ||
| XR_933380.2:n.2083C>T | ||
| NM_031885.4:c.1894C>T | NP_114091.3:p.Arg632Cys | |
| NM_001377456.1:c.1894C>T | NP_001364385.1:p.Arg632Cys | |
| NM_031885.5:c.1894C>T MANE Select | NP_114091.4:p.Arg632Cys | |
| NR_165293.1:n.2184C>T | ||
| NR_165294.1:n.2181C>T | ||
| NR_165295.1:n.2012C>T | ||
| NR_165296.1:n.1884C>T | ||
| NR_165297.1:n.1884C>T |