Linked Data
ClinVar Variation Id:
303977
dbSNP Id:
rs753756081
ExAC:
11:1958201 G / A
gnomAD v2:
11-1958201-G-A
gnomAD v4:
11-1936971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1936971G>A , CM000673.2:g.1936971G>A | GRCh38 |
| NC_000011.9:g.1958201G>A , CM000673.1:g.1958201G>A | GRCh37 |
| NC_000011.8:g.1914777G>A | NCBI36 |
| NG_013085.1:g.22403G>A | |
| NG_013085.2:g.22403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706488.1:c.716+717G>A | ENSP00000516410.1:n.716+717G>A | |
| ENST00000278317.11:c.690G>A MANE Select | ENSP00000278317.6:p.Thr230= | |
| ENST00000381558.6:c.666G>A | ENSP00000370970.1:p.Thr222= | |
| ENST00000639560.1:n.800G>A | ||
| ENST00000641119.1:c.684G>A | ENSP00000492914.1:p.Thr228= | |
| ENST00000641225.1:c.486G>A | ENSP00000493372.1:p.Thr162= | |
| ENST00000641787.1:c.666G>A | ENSP00000493331.1:p.Thr222= | |
| ENST00000278317.10:c.690G>A | ENSP00000278317.6:p.Thr230= | |
| ENST00000344578.8:c.651G>A | ENSP00000344870.4:p.Thr217= | |
| ENST00000381557.6:c.648G>A | ENSP00000370969.2:p.Thr216= | |
| ENST00000381558.5:c.666G>A | ENSP00000370970.1:p.Thr222= | |
| ENST00000381563.8:c.699G>A | ENSP00000370975.4:p.Thr233= | |
| ENST00000381579.7:c.698+717G>A | ENSP00000370991.3:n.698+717G>A | |
| ENST00000381589.7:c.684G>A | ENSP00000371001.3:p.Thr228= | |
| ENST00000397301.5:c.723G>A | ENSP00000380468.1:p.Thr241= | |
| ENST00000397304.6:c.633G>A | ENSP00000380471.2:p.Thr211= | |
| ENST00000446240.1:c.665+717G>A | ENSP00000413203.1:n.665+717G>A | |
| NM_001042780.2:c.698+717G>A | NP_001036245.1:n.698+717G>A | |
| NM_001042781.2:c.684G>A | NP_001036246.1:p.Thr228= | |
| NM_001042782.2:c.666G>A | NP_001036247.1:p.Thr222= | |
| NM_001297646.1:c.666G>A | NP_001284575.1:p.Thr222= | |
| NM_006757.3:c.690G>A | NP_006748.1:p.Thr230= | |
| XM_006718288.2:c.738G>A | XP_006718351.1:p.Thr246= | |
| XM_006718290.2:c.723G>A | XP_006718353.1:p.Thr241= | |
| XM_006718291.2:c.711G>A | XP_006718354.1:p.Thr237= | |
| XM_006718292.2:c.702G>A | XP_006718355.1:p.Thr234= | |
| XM_006718293.1:c.699G>A | XP_006718356.1:p.Thr233= | |
| XM_006718294.2:c.731+717G>A | XP_006718357.1:n.731+717G>A | |
| XM_006718295.2:c.696G>A | XP_006718358.1:p.Thr232= | |
| XM_006718296.2:c.687G>A | XP_006718359.1:p.Thr229= | |
| XM_006718297.2:c.678G>A | XP_006718360.1:p.Thr226= | |
| XM_006718298.2:c.672G>A | XP_006718361.1:p.Thr224= | |
| XM_006718299.1:c.663G>A | XP_006718362.1:p.Thr221= | |
| XM_006718300.2:c.651G>A | XP_006718363.1:p.Thr217= | |
| XM_006718301.2:c.683+717G>A | XP_006718364.1:n.683+717G>A | |
| XM_006718302.2:c.633G>A | XP_006718365.1:p.Thr211= | |
| XM_011520342.1:c.755+717G>A | XP_011518644.1:n.755+717G>A | |
| XM_011520343.1:c.723G>A | XP_011518645.1:p.Thr241= | |
| NM_001363561.1:c.699G>A | NP_001350490.1:p.Thr233= | |
| XM_006718288.3:c.738G>A | XP_006718351.1:p.Thr246= | |
| XM_006718290.3:c.723G>A | XP_006718353.1:p.Thr241= | |
| XM_006718294.3:c.731+717G>A | XP_006718357.1:n.731+717G>A | |
| XM_006718296.3:c.687G>A | XP_006718359.1:p.Thr229= | |
| XM_006718299.2:c.663G>A | XP_006718362.1:p.Thr221= | |
| XM_006718300.3:c.651G>A | XP_006718363.1:p.Thr217= | |
| XM_006718302.3:c.633G>A | XP_006718365.1:p.Thr211= | |
| XM_011520343.2:c.723G>A | XP_011518645.1:p.Thr241= | |
| XM_017018205.1:c.716+717G>A | XP_016873694.1:n.716+717G>A | |
| XM_017018206.1:c.723G>A | XP_016873695.1:p.Thr241= | |
| XM_017018207.1:c.711G>A | XP_016873696.1:p.Thr237= | |
| XM_017018208.1:c.702G>A | XP_016873697.1:p.Thr234= | |
| XM_017018209.1:c.687G>A | XP_016873698.1:p.Thr229= | |
| XM_017018210.1:c.678G>A | XP_016873699.1:p.Thr226= | |
| XM_017018211.1:c.672G>A | XP_016873700.1:p.Thr224= | |
| XM_017018212.1:c.669G>A | XP_016873701.1:p.Thr223= | |
| XM_017018213.1:c.654G>A | XP_016873702.1:p.Thr218= | |
| XM_017018214.1:c.683+717G>A | XP_016873703.1:n.683+717G>A | |
| XM_017018215.1:c.645G>A | XP_016873704.1:p.Thr215= | |
| XM_017018216.1:c.705G>A | XP_016873705.1:p.Thr235= | |
| XM_017018217.1:c.684G>A | XP_016873706.1:p.Thr228= | |
| XM_017018218.1:c.672G>A | XP_016873707.1:p.Thr224= | |
| XM_017018219.1:c.633G>A | XP_016873708.1:p.Thr211= | |
| XM_024448669.1:c.684G>A | XP_024304437.1:p.Thr228= | |
| XM_024448670.1:c.666G>A | XP_024304438.1:p.Thr222= | |
| XM_024448671.1:c.663G>A | XP_024304439.1:p.Thr221= | |
| XM_024448672.1:c.645G>A | XP_024304440.1:p.Thr215= | |
| NM_001367842.1:c.684G>A | NP_001354771.1:p.Thr228= | |
| NM_001367843.1:c.716+717G>A | NP_001354772.1:n.716+717G>A | |
| NM_001367844.1:c.666G>A | NP_001354773.1:p.Thr222= | |
| NM_001367845.1:c.666G>A | NP_001354774.1:p.Thr222= | |
| NM_001367846.1:c.723G>A | NP_001354775.1:p.Thr241= | |
| NM_001367847.1:c.699G>A | NP_001354776.1:p.Thr233= | |
| NM_001367848.1:c.687G>A | NP_001354777.1:p.Thr229= | |
| NM_001367849.1:c.678G>A | NP_001354778.1:p.Thr226= | |
| NM_001367850.1:c.633G>A | NP_001354779.1:p.Thr211= | |
| NM_001367851.1:c.486G>A | NP_001354780.1:p.Thr162= | |
| NM_001367852.1:c.486G>A | NP_001354781.1:p.Thr162= | |
| NM_006757.4:c.690G>A MANE Select | NP_006748.1:p.Thr230= | |
| NM_001042780.3:c.698+717G>A | NP_001036245.1:n.698+717G>A | |
| NM_001042781.3:c.684G>A | NP_001036246.1:p.Thr228= | |
| NM_001042782.3:c.666G>A | NP_001036247.1:p.Thr222= | |
| NM_001297646.2:c.666G>A | NP_001284575.1:p.Thr222= | |
| NM_001363561.2:c.699G>A | NP_001350490.1:p.Thr233= |