Linked Data
ClinVar Variation Id:
319850
dbSNP Id:
rs751604858
ExAC:
16:56530870 A / C
gnomAD v2:
16-56530870-A-C
gnomAD v3:
16-56496958-A-C
gnomAD v4:
16-56496958-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56496958A>C , CM000678.2:g.56496958A>C | GRCh38 |
| NC_000016.9:g.56530870A>C , CM000678.1:g.56530870A>C | GRCh37 |
| NC_000016.8:g.55088371A>C | NCBI36 |
| NG_009312.1:g.28326T>G | |
| NG_009312.2:g.28067T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1897+9T>G | ENSP00000454986.2:n.1897+9T>G | |
| ENST00000562813.2:n.3397+9T>G | ||
| ENST00000564459.6:n.637+9T>G | ||
| ENST00000565781.6:n.5441+9T>G | ||
| ENST00000565859.2:n.2984+9T>G | ||
| ENST00000566210.2:n.2339+9T>G | ||
| ENST00000566410.2:n.5424+9T>G | ||
| ENST00000566452.2:n.3033+9T>G | ||
| ENST00000568104.6:c.1772+9T>G | ENSP00000456289.1:n.1772+9T>G | |
| ENST00000569192.6:n.1015+9T>G | ||
| ENST00000618027.2:n.689+9T>G | ||
| ENST00000682000.1:n.1468+9T>G | ||
| ENST00000682001.1:n.2939+9T>G | ||
| ENST00000682005.1:n.1910T>G | ||
| ENST00000682038.1:c.*1299+9T>G | ENSP00000508404.1:n.*1299+9T>G | |
| ENST00000682047.1:c.1910+9T>G | ENSP00000507699.1:n.1910+9T>G | |
| ENST00000682088.1:c.*4851+9T>G | ENSP00000508064.1:n.*4851+9T>G | |
| ENST00000682096.1:n.4360+9T>G | ||
| ENST00000682113.1:n.4127+9T>G | ||
| ENST00000682146.1:n.3067+9T>G | ||
| ENST00000682187.1:c.*1334+9T>G | ENSP00000507203.1:n.*1334+9T>G | |
| ENST00000682188.1:c.1955+9T>G | ENSP00000507655.1:n.1955+9T>G | |
| ENST00000682201.1:n.1901+9T>G | ||
| ENST00000682205.1:c.1910+9T>G | ENSP00000508377.1:n.1910+9T>G | |
| ENST00000682348.1:c.*959+9T>G | ENSP00000506965.1:n.*959+9T>G | |
| ENST00000682360.1:c.1313+9T>G | ENSP00000508007.1:n.1313+9T>G | |
| ENST00000682370.1:n.3276+9T>G | ||
| ENST00000682420.1:n.2457+9T>G | ||
| ENST00000682429.1:c.*579+9T>G | ENSP00000506827.1:n.*579+9T>G | |
| ENST00000682449.1:c.*661+9T>G | ENSP00000507836.1:n.*661+9T>G | |
| ENST00000682470.1:c.1910+9T>G | ENSP00000507654.1:n.1910+9T>G | |
| ENST00000682473.1:n.1875+9T>G | ||
| ENST00000682482.1:c.1784+9T>G | ENSP00000507903.1:n.1784+9T>G | |
| ENST00000682492.1:n.1998+9T>G | ||
| ENST00000682493.1:c.*505+9T>G | ENSP00000506778.1:n.*505+9T>G | |
| ENST00000682543.1:c.*1334+9T>G | ENSP00000507592.1:n.*1334+9T>G | |
| ENST00000682597.1:n.4097+9T>G | ||
| ENST00000682623.1:n.520T>G | ||
| ENST00000682658.1:c.*942+9T>G | ENSP00000507773.1:n.*942+9T>G | |
| ENST00000682705.1:n.2979+9T>G | ||
| ENST00000682723.1:c.1313+9T>G | ENSP00000507115.1:n.1313+9T>G | |
| ENST00000682735.1:c.*3578+9T>G | ENSP00000507007.1:n.*3578+9T>G | |
| ENST00000682737.1:c.1313+9T>G | ENSP00000506876.1:n.1313+9T>G | |
| ENST00000682757.1:n.3603+9T>G | ||
| ENST00000682855.1:c.1910+9T>G | ENSP00000507027.1:n.1910+9T>G | |
| ENST00000682875.1:c.1910+9T>G | ENSP00000507771.1:n.1910+9T>G | |
| ENST00000682930.1:c.1835+9T>G | ENSP00000507981.1:n.1835+9T>G | |
| ENST00000682948.1:n.2942+9T>G | ||
| ENST00000682960.1:n.4151+9T>G | ||
| ENST00000683008.1:n.5306+9T>G | ||
| ENST00000683020.1:c.*451+9T>G | ENSP00000507944.1:n.*451+9T>G | |
| ENST00000683099.1:n.3939+9T>G | ||
| ENST00000683170.1:n.3635+9T>G | ||
| ENST00000683212.1:c.*451+9T>G | ENSP00000507839.1:n.*451+9T>G | |
| ENST00000683248.1:n.3868+9T>G | ||
| ENST00000683343.1:n.2764+9T>G | ||
| ENST00000683347.1:n.2117+9T>G | ||
| ENST00000683384.1:c.1931+9T>G | ENSP00000508330.1:n.1931+9T>G | |
| ENST00000683396.1:n.4687+9T>G | ||
| ENST00000683410.1:n.2332+9T>G | ||
| ENST00000683443.1:n.1544+9T>G | ||
| ENST00000683485.1:n.4478+9T>G | ||
| ENST00000683504.1:n.7501+9T>G | ||
| ENST00000683533.1:c.*1334+9T>G | ENSP00000508296.1:n.*1334+9T>G | |
| ENST00000683609.1:n.3979+9T>G | ||
| ENST00000683644.1:c.*1084+9T>G | ENSP00000507914.1:n.*1084+9T>G | |
| ENST00000683660.1:n.2132T>G | ||
| ENST00000683669.1:n.1793+9T>G | ||
| ENST00000683690.1:c.*3362+9T>G | ENSP00000508152.1:n.*3362+9T>G | |
| ENST00000683719.1:n.1893+9T>G | ||
| ENST00000683757.1:n.1899+9T>G | ||
| ENST00000683858.1:c.1862+9T>G | ENSP00000507657.1:n.1862+9T>G | |
| ENST00000683875.1:c.1682+9T>G | ENSP00000507602.1:n.1682+9T>G | |
| ENST00000683904.1:n.4215+9T>G | ||
| ENST00000683910.1:n.4605+9T>G | ||
| ENST00000683959.1:c.*959+9T>G | ENSP00000508309.1:n.*959+9T>G | |
| ENST00000683976.1:c.*1459+9T>G | ENSP00000507183.1:n.*1459+9T>G | |
| ENST00000683978.1:n.2053+9T>G | ||
| ENST00000683992.1:c.*1550+9T>G | ENSP00000508144.1:n.*1550+9T>G | |
| ENST00000684020.1:n.2332+9T>G | ||
| ENST00000684044.1:n.2898+9T>G | ||
| ENST00000684057.1:n.2828+9T>G | ||
| ENST00000684076.1:n.3290+9T>G | ||
| ENST00000684128.1:n.3478+9T>G | ||
| ENST00000684194.1:n.3541+9T>G | ||
| ENST00000684205.1:n.3589+9T>G | ||
| ENST00000684246.1:c.*1550+9T>G | ENSP00000508273.1:n.*1550+9T>G | |
| ENST00000684388.1:c.830+9T>G | ENSP00000507647.1:n.830+9T>G | |
| ENST00000684402.1:n.3151+9T>G | ||
| ENST00000684446.1:n.3394+9T>G | ||
| ENST00000684531.1:n.3352+9T>G | ||
| ENST00000684635.1:c.1805+9T>G | ENSP00000507335.1:n.1805+9T>G | |
| ENST00000684640.1:c.1872+9T>G | ENSP00000507292.1:n.1872+9T>G | |
| ENST00000684673.1:c.*505+9T>G | ENSP00000507746.1:n.*505+9T>G | |
| ENST00000684684.1:c.*1162+9T>G | ENSP00000507026.1:n.*1162+9T>G | |
| ENST00000245157.11:c.1910+9T>G MANE Select | ENSP00000245157.5:n.1910+9T>G | |
| ENST00000245157.9:c.1910+9T>G | ENSP00000245157.5:n.1910+9T>G | |
| ENST00000562813.1:n.3397+9T>G | ||
| ENST00000564459.5:c.173+9T>G | ENSP00000463731.1:n.173+9T>G | |
| ENST00000565781.5:n.5441+9T>G | ||
| ENST00000568104.5:c.1772+9T>G | ENSP00000456289.1:n.1772+9T>G | |
| ENST00000569192.5:n.584+9T>G | ||
| NM_031885.3:c.1910+9T>G | NP_114091.3:n.1910+9T>G | |
| XM_005256080.1:c.1910+9T>G | XP_005256137.1:n.1910+9T>G | |
| XR_933378.1:n.1971+9T>G | ||
| XM_005256080.2:c.1910+9T>G | XP_005256137.1:n.1910+9T>G | |
| XR_001751958.1:n.2271+9T>G | ||
| XR_001751959.2:n.2268+9T>G | ||
| XR_001751960.1:n.1971+9T>G | ||
| XR_001751961.1:n.1971+9T>G | ||
| XR_933380.2:n.2099+9T>G | ||
| NM_031885.4:c.1910+9T>G | NP_114091.3:n.1910+9T>G | |
| NM_001377456.1:c.1910+9T>G | NP_001364385.1:n.1910+9T>G | |
| NM_031885.5:c.1910+9T>G MANE Select | NP_114091.4:n.1910+9T>G | |
| NR_165293.1:n.2200+9T>G | ||
| NR_165294.1:n.2197+9T>G | ||
| NR_165295.1:n.2028+9T>G | ||
| NR_165296.1:n.1900+9T>G | ||
| NR_165297.1:n.1900+9T>G |