Linked Data
ClinVar Variation Id:
319853
dbSNP Id:
rs370960689
ExAC:
16:56531643 G / A
gnomAD v2:
16-56531643-G-A
gnomAD v3:
16-56497731-G-A
gnomAD v4:
16-56497731-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56497731G>A , CM000678.2:g.56497731G>A | GRCh38 |
| NC_000016.9:g.56531643G>A , CM000678.1:g.56531643G>A | GRCh37 |
| NC_000016.8:g.55089144G>A | NCBI36 |
| NG_009312.1:g.27553C>T | |
| NG_009312.2:g.27294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1784+12C>T | ENSP00000454986.2:n.1784+12C>T | |
| ENST00000562813.2:n.2633C>T | ||
| ENST00000564459.6:n.524+12C>T | ||
| ENST00000565781.6:n.5328+12C>T | ||
| ENST00000565859.2:n.2871+12C>T | ||
| ENST00000566210.2:n.2226+12C>T | ||
| ENST00000566410.2:n.5311+12C>T | ||
| ENST00000566452.2:n.2269C>T | ||
| ENST00000566495.2:n.766+12C>T | ||
| ENST00000568104.6:c.1660-652C>T | ENSP00000456289.1:n.1660-652C>T | |
| ENST00000569192.6:n.902+12C>T | ||
| ENST00000618027.2:n.576+12C>T | ||
| ENST00000682000.1:n.1355+12C>T | ||
| ENST00000682001.1:n.2826+12C>T | ||
| ENST00000682005.1:n.1788+12C>T | ||
| ENST00000682038.1:c.*1186+12C>T | ENSP00000508404.1:n.*1186+12C>T | |
| ENST00000682047.1:c.1797+12C>T | ENSP00000507699.1:n.1797+12C>T | |
| ENST00000682088.1:c.*4738+12C>T | ENSP00000508064.1:n.*4738+12C>T | |
| ENST00000682096.1:n.4247+12C>T | ||
| ENST00000682113.1:n.4014+12C>T | ||
| ENST00000682146.1:n.2954+12C>T | ||
| ENST00000682187.1:c.*1221+12C>T | ENSP00000507203.1:n.*1221+12C>T | |
| ENST00000682188.1:c.1797+12C>T | ENSP00000507655.1:n.1797+12C>T | |
| ENST00000682201.1:n.1788+12C>T | ||
| ENST00000682205.1:c.1797+12C>T | ENSP00000508377.1:n.1797+12C>T | |
| ENST00000682348.1:c.*846+12C>T | ENSP00000506965.1:n.*846+12C>T | |
| ENST00000682360.1:c.1200+12C>T | ENSP00000508007.1:n.1200+12C>T | |
| ENST00000682370.1:n.3163+12C>T | ||
| ENST00000682420.1:n.2344+12C>T | ||
| ENST00000682429.1:c.*466+12C>T | ENSP00000506827.1:n.*466+12C>T | |
| ENST00000682449.1:c.*548+12C>T | ENSP00000507836.1:n.*548+12C>T | |
| ENST00000682470.1:c.1797+12C>T | ENSP00000507654.1:n.1797+12C>T | |
| ENST00000682473.1:n.1762+12C>T | ||
| ENST00000682482.1:c.1671+12C>T | ENSP00000507903.1:n.1671+12C>T | |
| ENST00000682492.1:n.1885+12C>T | ||
| ENST00000682493.1:c.*392+12C>T | ENSP00000506778.1:n.*392+12C>T | |
| ENST00000682543.1:c.*1221+12C>T | ENSP00000507592.1:n.*1221+12C>T | |
| ENST00000682597.1:n.3984+12C>T | ||
| ENST00000682623.1:n.398+12C>T | ||
| ENST00000682658.1:c.*829+12C>T | ENSP00000507773.1:n.*829+12C>T | |
| ENST00000682705.1:n.2866+12C>T | ||
| ENST00000682723.1:c.1200+12C>T | ENSP00000507115.1:n.1200+12C>T | |
| ENST00000682735.1:c.*3465+12C>T | ENSP00000507007.1:n.*3465+12C>T | |
| ENST00000682737.1:c.1200+12C>T | ENSP00000506876.1:n.1200+12C>T | |
| ENST00000682757.1:n.3490+12C>T | ||
| ENST00000682855.1:c.1797+12C>T | ENSP00000507027.1:n.1797+12C>T | |
| ENST00000682875.1:c.1797+12C>T | ENSP00000507771.1:n.1797+12C>T | |
| ENST00000682930.1:c.1722+12C>T | ENSP00000507981.1:n.1722+12C>T | |
| ENST00000682948.1:n.2829+12C>T | ||
| ENST00000682960.1:n.4038+12C>T | ||
| ENST00000683008.1:n.5193+12C>T | ||
| ENST00000683020.1:c.*338+12C>T | ENSP00000507944.1:n.*338+12C>T | |
| ENST00000683099.1:n.3175C>T | ||
| ENST00000683170.1:n.3522+12C>T | ||
| ENST00000683212.1:c.*338+12C>T | ENSP00000507839.1:n.*338+12C>T | |
| ENST00000683248.1:n.3755+12C>T | ||
| ENST00000683343.1:n.2651+12C>T | ||
| ENST00000683347.1:n.2004+12C>T | ||
| ENST00000683384.1:c.1818+12C>T | ENSP00000508330.1:n.1818+12C>T | |
| ENST00000683396.1:n.4574+12C>T | ||
| ENST00000683410.1:n.2219+12C>T | ||
| ENST00000683443.1:n.1431+12C>T | ||
| ENST00000683485.1:n.4365+12C>T | ||
| ENST00000683504.1:n.7388+12C>T | ||
| ENST00000683533.1:c.*1221+12C>T | ENSP00000508296.1:n.*1221+12C>T | |
| ENST00000683609.1:n.3866+12C>T | ||
| ENST00000683644.1:c.*971+12C>T | ENSP00000507914.1:n.*971+12C>T | |
| ENST00000683660.1:n.2010+12C>T | ||
| ENST00000683669.1:n.1680+12C>T | ||
| ENST00000683690.1:c.*3249+12C>T | ENSP00000508152.1:n.*3249+12C>T | |
| ENST00000683719.1:n.1780+12C>T | ||
| ENST00000683757.1:n.1786+12C>T | ||
| ENST00000683858.1:c.1749+12C>T | ENSP00000507657.1:n.1749+12C>T | |
| ENST00000683875.1:c.1569+12C>T | ENSP00000507602.1:n.1569+12C>T | |
| ENST00000683904.1:n.4102+12C>T | ||
| ENST00000683910.1:n.4492+12C>T | ||
| ENST00000683959.1:c.*846+12C>T | ENSP00000508309.1:n.*846+12C>T | |
| ENST00000683976.1:c.*1346+12C>T | ENSP00000507183.1:n.*1346+12C>T | |
| ENST00000683978.1:n.1940+12C>T | ||
| ENST00000683992.1:c.*1437+12C>T | ENSP00000508144.1:n.*1437+12C>T | |
| ENST00000684020.1:n.2219+12C>T | ||
| ENST00000684044.1:n.2785+12C>T | ||
| ENST00000684057.1:n.2715+12C>T | ||
| ENST00000684076.1:n.3177+12C>T | ||
| ENST00000684128.1:n.3365+12C>T | ||
| ENST00000684194.1:n.3428+12C>T | ||
| ENST00000684205.1:n.3476+12C>T | ||
| ENST00000684246.1:c.*1437+12C>T | ENSP00000508273.1:n.*1437+12C>T | |
| ENST00000684388.1:c.717+12C>T | ENSP00000507647.1:n.717+12C>T | |
| ENST00000684402.1:n.3038+12C>T | ||
| ENST00000684446.1:n.3281+12C>T | ||
| ENST00000684531.1:n.3239+12C>T | ||
| ENST00000684635.1:c.1692+12C>T | ENSP00000507335.1:n.1692+12C>T | |
| ENST00000684640.1:c.1759+12C>T | ENSP00000507292.1:n.1759+12C>T | |
| ENST00000684673.1:c.*392+12C>T | ENSP00000507746.1:n.*392+12C>T | |
| ENST00000684684.1:c.*1049+12C>T | ENSP00000507026.1:n.*1049+12C>T | |
| ENST00000245157.11:c.1797+12C>T MANE Select | ENSP00000245157.5:n.1797+12C>T | |
| ENST00000245157.9:c.1797+12C>T | ENSP00000245157.5:n.1797+12C>T | |
| ENST00000562813.1:n.2633C>T | ||
| ENST00000564459.5:c.60+12C>T | ENSP00000463731.1:n.60+12C>T | |
| ENST00000565781.5:n.5328+12C>T | ||
| ENST00000568104.5:c.1660-652C>T | ENSP00000456289.1:n.1660-652C>T | |
| ENST00000569192.5:n.471+12C>T | ||
| NM_031885.3:c.1797+12C>T | NP_114091.3:n.1797+12C>T | |
| XM_005256080.1:c.1797+12C>T | XP_005256137.1:n.1797+12C>T | |
| XR_933378.1:n.1858+12C>T | ||
| XM_005256080.2:c.1797+12C>T | XP_005256137.1:n.1797+12C>T | |
| XR_001751958.1:n.2158+12C>T | ||
| XR_001751959.2:n.2155+12C>T | ||
| XR_001751960.1:n.1858+12C>T | ||
| XR_001751961.1:n.1858+12C>T | ||
| XR_933380.2:n.1986+12C>T | ||
| NM_031885.4:c.1797+12C>T | NP_114091.3:n.1797+12C>T | |
| NM_001377456.1:c.1797+12C>T | NP_001364385.1:n.1797+12C>T | |
| NM_031885.5:c.1797+12C>T MANE Select | NP_114091.4:n.1797+12C>T | |
| NR_165293.1:n.2087+12C>T | ||
| NR_165294.1:n.2084+12C>T | ||
| NR_165295.1:n.1915+12C>T | ||
| NR_165296.1:n.1787+12C>T | ||
| NR_165297.1:n.1787+12C>T |