Linked Data
ClinVar Variation Id:
319864
dbSNP Id:
rs186893286
ExAC:
16:56539922 A / G
gnomAD v2:
16-56539922-A-G
gnomAD v3:
16-56506010-A-G
gnomAD v4:
16-56506010-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56506010A>G , CM000678.2:g.56506010A>G | GRCh38 |
| NC_000016.9:g.56539922A>G , CM000678.1:g.56539922A>G | GRCh37 |
| NC_000016.8:g.55097423A>G | NCBI36 |
| NG_009312.1:g.19274T>C | |
| NG_009312.2:g.19015T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.27T>C | ENSP00000454986.2:p.His9= | |
| ENST00000562012.2:c.*718T>C | ENSP00000455651.2:n.*718T>C | |
| ENST00000562059.2:n.741T>C | ||
| ENST00000565378.2:n.681T>C | ||
| ENST00000565781.6:n.758T>C | ||
| ENST00000565859.2:n.999T>C | ||
| ENST00000566210.2:n.27T>C | ||
| ENST00000566410.2:n.957T>C | ||
| ENST00000568104.6:c.744T>C | ENSP00000456289.1:p.His248= | |
| ENST00000569342.6:n.917T>C | ||
| ENST00000682000.1:n.302T>C | ||
| ENST00000682001.1:n.738T>C | ||
| ENST00000682005.1:n.735T>C | ||
| ENST00000682021.1:n.754T>C | ||
| ENST00000682038.1:c.*8T>C | ENSP00000508404.1:n.*8T>C | |
| ENST00000682047.1:c.744T>C | ENSP00000507699.1:p.His248= | |
| ENST00000682088.1:c.*168T>C | ENSP00000508064.1:n.*168T>C | |
| ENST00000682096.1:n.950T>C | ||
| ENST00000682113.1:n.717T>C | ||
| ENST00000682146.1:n.957T>C | ||
| ENST00000682187.1:c.*168T>C | ENSP00000507203.1:n.*168T>C | |
| ENST00000682188.1:c.744T>C | ENSP00000507655.1:p.His248= | |
| ENST00000682201.1:n.735T>C | ||
| ENST00000682205.1:c.744T>C | ENSP00000508377.1:p.His248= | |
| ENST00000682348.1:c.744T>C | ENSP00000506965.1:p.His248= | |
| ENST00000682360.1:c.147T>C | ENSP00000508007.1:p.His49= | |
| ENST00000682370.1:n.950T>C | ||
| ENST00000682420.1:n.950T>C | ||
| ENST00000682429.1:c.744T>C | ENSP00000506827.1:p.His248= | |
| ENST00000682449.1:c.744T>C | ENSP00000507836.1:p.His248= | |
| ENST00000682470.1:c.744T>C | ENSP00000507654.1:p.His248= | |
| ENST00000682473.1:n.709T>C | ||
| ENST00000682482.1:c.618T>C | ENSP00000507903.1:p.His206= | |
| ENST00000682492.1:n.788T>C | ||
| ENST00000682493.1:c.744T>C | ENSP00000506778.1:p.His248= | |
| ENST00000682543.1:c.*168T>C | ENSP00000507592.1:n.*168T>C | |
| ENST00000682561.1:n.753T>C | ||
| ENST00000682597.1:n.950T>C | ||
| ENST00000682658.1:c.744T>C | ENSP00000507773.1:p.His248= | |
| ENST00000682705.1:n.950T>C | ||
| ENST00000682723.1:c.147T>C | ENSP00000507115.1:p.His49= | |
| ENST00000682735.1:c.*168T>C | ENSP00000507007.1:n.*168T>C | |
| ENST00000682737.1:c.147T>C | ENSP00000506876.1:p.His49= | |
| ENST00000682757.1:n.950T>C | ||
| ENST00000682855.1:c.744T>C | ENSP00000507027.1:p.His248= | |
| ENST00000682857.1:n.957T>C | ||
| ENST00000682875.1:c.744T>C | ENSP00000507771.1:p.His248= | |
| ENST00000682919.1:n.844T>C | ||
| ENST00000682930.1:c.669T>C | ENSP00000507981.1:p.His223= | |
| ENST00000682948.1:n.957T>C | ||
| ENST00000682960.1:n.957T>C | ||
| ENST00000683008.1:n.950T>C | ||
| ENST00000683020.1:c.744T>C | ENSP00000507944.1:p.His248= | |
| ENST00000683099.1:n.950T>C | ||
| ENST00000683170.1:n.888T>C | ||
| ENST00000683212.1:c.744T>C | ENSP00000507839.1:p.His248= | |
| ENST00000683248.1:n.950T>C | ||
| ENST00000683343.1:n.735T>C | ||
| ENST00000683347.1:n.735T>C | ||
| ENST00000683384.1:c.765T>C | ENSP00000508330.1:n.765T>C | |
| ENST00000683396.1:n.950T>C | ||
| ENST00000683410.1:n.950T>C | ||
| ENST00000683443.1:n.378T>C | ||
| ENST00000683485.1:n.957T>C | ||
| ENST00000683504.1:n.950T>C | ||
| ENST00000683533.1:c.*168T>C | ENSP00000508296.1:n.*168T>C | |
| ENST00000683609.1:n.957T>C | ||
| ENST00000683644.1:c.744T>C | ENSP00000507914.1:p.His248= | |
| ENST00000683660.1:n.957T>C | ||
| ENST00000683669.1:n.627T>C | ||
| ENST00000683690.1:c.*168T>C | ENSP00000508152.1:n.*168T>C | |
| ENST00000683719.1:n.727T>C | ||
| ENST00000683757.1:n.733T>C | ||
| ENST00000683858.1:c.744T>C | ENSP00000507657.1:p.His248= | |
| ENST00000683875.1:c.516T>C | ENSP00000507602.1:p.His172= | |
| ENST00000683904.1:n.957T>C | ||
| ENST00000683910.1:n.957T>C | ||
| ENST00000683959.1:c.147T>C | ENSP00000508309.1:p.His49= | |
| ENST00000683976.1:c.*293T>C | ENSP00000507183.1:n.*293T>C | |
| ENST00000683978.1:n.887T>C | ||
| ENST00000683992.1:c.*168T>C | ENSP00000508144.1:n.*168T>C | |
| ENST00000684020.1:n.950T>C | ||
| ENST00000684044.1:n.957T>C | ||
| ENST00000684057.1:n.946T>C | ||
| ENST00000684076.1:n.915T>C | ||
| ENST00000684128.1:n.950T>C | ||
| ENST00000684194.1:n.950T>C | ||
| ENST00000684205.1:n.1388T>C | ||
| ENST00000684246.1:c.*168T>C | ENSP00000508273.1:n.*168T>C | |
| ENST00000684402.1:n.950T>C | ||
| ENST00000684446.1:n.957T>C | ||
| ENST00000684531.1:n.977T>C | ||
| ENST00000684635.1:c.639T>C | ENSP00000507335.1:p.His213= | |
| ENST00000684640.1:c.627T>C | ENSP00000507292.1:p.His209= | |
| ENST00000684673.1:c.744T>C | ENSP00000507746.1:p.His248= | |
| ENST00000684684.1:c.*168T>C | ENSP00000507026.1:n.*168T>C | |
| ENST00000245157.11:c.744T>C MANE Select | ENSP00000245157.5:p.His248= | |
| ENST00000245157.9:c.744T>C | ENSP00000245157.5:p.His248= | |
| ENST00000561853.1:n.71T>C | ||
| ENST00000561951.5:n.393T>C | ||
| ENST00000562012.1:c.165T>C | ENSP00000455651.1:p.His55= | |
| ENST00000565781.5:n.758T>C | ||
| ENST00000565859.1:n.743T>C | ||
| ENST00000568104.5:c.744T>C | ENSP00000456289.1:p.His248= | |
| ENST00000569342.5:n.878T>C | ||
| NM_031885.3:c.744T>C | NP_114091.3:p.His248= | |
| XM_005256080.1:c.744T>C | XP_005256137.1:p.His248= | |
| XM_005256081.1:c.744T>C | XP_005256138.1:p.His248= | |
| XM_005256082.1:c.744T>C | XP_005256139.1:p.His248= | |
| XM_011523251.1:c.744T>C | XP_011521553.1:p.His248= | |
| XR_933378.1:n.977T>C | ||
| XR_933379.1:n.977T>C | ||
| XR_933380.1:n.977T>C | ||
| XM_005256080.2:c.744T>C | XP_005256137.1:p.His248= | |
| XR_001751958.1:n.977T>C | ||
| XR_001751959.2:n.977T>C | ||
| XR_001751960.1:n.977T>C | ||
| XR_001751961.1:n.977T>C | ||
| XR_933380.2:n.977T>C | ||
| NM_031885.4:c.744T>C | NP_114091.3:p.His248= | |
| NM_001377456.1:c.744T>C | NP_001364385.1:p.His248= | |
| NM_031885.5:c.744T>C MANE Select | NP_114091.4:p.His248= | |
| NR_165293.1:n.906T>C | ||
| NR_165294.1:n.906T>C | ||
| NR_165295.1:n.906T>C | ||
| NR_165296.1:n.906T>C | ||
| NR_165297.1:n.906T>C |