Linked Data
ClinVar Variation Id:
418339
ClinVar RCV Id:
RCV000478166
dbSNP Id:
rs1064793196
gnomAD v2:
6-74175944-G-A
gnomAD v4:
6-73466221-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73466221G>A , CM000668.2:g.73466221G>A | GRCh38 |
| NC_000006.11:g.74175944G>A , CM000668.1:g.74175944G>A | GRCh37 |
| NC_000006.10:g.74232665G>A | NCBI36 |
| NG_032856.1:g.9491G>A | |
| NG_032856.2:g.9491G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000442897.7:c.8G>A | ENSP00000396529.2:p.Cys3Tyr | |
| ENST00000445187.6:c.230G>A | ENSP00000407580.2:p.Cys77Tyr | |
| ENST00000485082.2:n.71G>A | ||
| ENST00000487960.2:n.71G>A | ||
| ENST00000498286.6:c.230G>A MANE Select | ENSP00000419561.2:p.Cys77Tyr | |
| ENST00000521032.6:n.348G>A | ||
| ENST00000521156.6:c.8G>A | ENSP00000428863.2:p.Cys3Tyr | |
| ENST00000522205.6:c.230G>A | ENSP00000428903.2:p.Cys77Tyr | |
| ENST00000523763.2:c.230G>A | ENSP00000429595.2:p.Cys77Tyr | |
| ENST00000524046.2:c.230G>A | ENSP00000430660.2:p.Cys77Tyr | |
| ENST00000679352.1:c.230G>A | ENSP00000505776.1:p.Cys77Tyr | |
| ENST00000679364.1:c.230G>A | ENSP00000505626.1:p.Cys77Tyr | |
| ENST00000679411.1:c.230G>A | ENSP00000506532.1:p.Cys77Tyr | |
| ENST00000679418.1:c.8G>A | ENSP00000505278.1:p.Cys3Tyr | |
| ENST00000679524.1:c.230G>A | ENSP00000505038.1:p.Cys77Tyr | |
| ENST00000679591.1:c.212G>A | ENSP00000505656.1:n.212G>A | |
| ENST00000679592.1:c.*44G>A | ENSP00000505736.1:n.*44G>A | |
| ENST00000679604.1:c.230G>A | ENSP00000506268.1:p.Cys77Tyr | |
| ENST00000679612.1:n.354G>A | ||
| ENST00000679627.1:c.230G>A | ENSP00000505373.1:p.Cys77Tyr | |
| ENST00000679675.1:c.230G>A | ENSP00000505458.1:p.Cys77Tyr | |
| ENST00000679730.1:c.230G>A | ENSP00000506698.1:p.Cys77Tyr | |
| ENST00000679808.1:c.8G>A | ENSP00000506127.1:p.Cys3Tyr | |
| ENST00000679870.1:c.8G>A | ENSP00000505401.1:p.Cys3Tyr | |
| ENST00000679900.1:c.8G>A | ENSP00000505653.1:p.Cys3Tyr | |
| ENST00000679905.1:c.230G>A | ENSP00000505787.1:p.Cys77Tyr | |
| ENST00000679947.1:c.8G>A | ENSP00000506630.1:p.Cys3Tyr | |
| ENST00000679993.1:n.68G>A | ||
| ENST00000680034.1:c.230G>A | ENSP00000505785.1:p.Cys77Tyr | |
| ENST00000680131.1:c.230G>A | ENSP00000505906.1:p.Cys77Tyr | |
| ENST00000680195.1:n.336G>A | ||
| ENST00000680238.1:c.230G>A | ENSP00000506260.1:p.Cys77Tyr | |
| ENST00000680266.1:n.354G>A | ||
| ENST00000680289.1:c.8G>A | ENSP00000505097.1:p.Cys3Tyr | |
| ENST00000680350.1:n.354G>A | ||
| ENST00000680405.1:n.336G>A | ||
| ENST00000680428.1:c.230G>A | ENSP00000506210.1:p.Cys77Tyr | |
| ENST00000680544.1:c.230G>A | ENSP00000506702.1:p.Cys77Tyr | |
| ENST00000680563.1:c.168G>A | ||
| ENST00000680570.1:n.354G>A | ||
| ENST00000680601.1:c.*44G>A | ENSP00000506582.1:n.*44G>A | |
| ENST00000680609.1:c.8G>A | ENSP00000505053.1:p.Cys3Tyr | |
| ENST00000680686.1:c.8G>A | ENSP00000506609.1:p.Cys3Tyr | |
| ENST00000680758.1:c.*44G>A | ENSP00000505192.1:n.*44G>A | |
| ENST00000680775.1:c.8G>A | ENSP00000505199.1:p.Cys3Tyr | |
| ENST00000680794.1:c.230G>A | ENSP00000506362.1:p.Cys77Tyr | |
| ENST00000680841.1:c.209G>A | ENSP00000506524.1:n.209G>A | |
| ENST00000680875.1:c.230G>A | ENSP00000506042.1:p.Cys77Tyr | |
| ENST00000680902.1:c.8G>A | ENSP00000505813.1:p.Cys3Tyr | |
| ENST00000681094.1:c.230G>A | ENSP00000505394.1:p.Cys77Tyr | |
| ENST00000681141.1:c.8G>A | ENSP00000506035.1:p.Cys3Tyr | |
| ENST00000681165.1:c.230G>A | ENSP00000506088.1:p.Cys77Tyr | |
| ENST00000681204.1:c.230G>A | ENSP00000505819.1:p.Cys77Tyr | |
| ENST00000681212.1:n.354G>A | ||
| ENST00000681254.1:c.230G>A | ENSP00000506575.1:p.Cys77Tyr | |
| ENST00000681267.1:c.8G>A | ENSP00000506570.1:p.Cys3Tyr | |
| ENST00000681284.1:n.354G>A | ||
| ENST00000681294.1:c.230G>A | ENSP00000505615.1:p.Cys77Tyr | |
| ENST00000681337.1:c.8G>A | ENSP00000506108.1:p.Cys3Tyr | |
| ENST00000681438.1:c.230G>A | ENSP00000505135.1:p.Cys77Tyr | |
| ENST00000681509.1:c.8G>A | ENSP00000506571.1:p.Cys3Tyr | |
| ENST00000681579.1:c.8G>A | ENSP00000505732.1:p.Cys3Tyr | |
| ENST00000681610.1:c.230G>A | ENSP00000505229.1:p.Cys77Tyr | |
| ENST00000681620.1:c.230G>A | ENSP00000505386.1:p.Cys77Tyr | |
| ENST00000681624.1:c.225G>A | ENSP00000505820.1:p.Met75Ile | |
| ENST00000681691.1:c.230G>A | ENSP00000505613.1:p.Cys77Tyr | |
| ENST00000681705.1:c.230G>A | ENSP00000506381.1:p.Cys77Tyr | |
| ENST00000681890.1:c.230G>A | ENSP00000505751.1:p.Cys77Tyr | |
| ENST00000681932.1:c.230G>A | ENSP00000505826.1:p.Cys77Tyr | |
| ENST00000370300.8:c.230G>A | ENSP00000359323.4:p.Cys77Tyr | |
| ENST00000370305.5:c.8G>A | ENSP00000359328.1:p.Cys3Tyr | |
| ENST00000370308.8:n.320G>A | ||
| ENST00000415228.5:c.230G>A | ENSP00000416397.1:p.Cys77Tyr | |
| ENST00000415954.6:c.230G>A | ENSP00000402038.2:p.Cys77Tyr | |
| ENST00000442897.6:c.8G>A | ENSP00000396529.2:p.Cys3Tyr | |
| ENST00000462039.5:n.290G>A | ||
| ENST00000498286.5:c.230G>A | ENSP00000419561.1:p.Cys77Tyr | |
| ENST00000518210.5:n.193G>A | ||
| ENST00000521032.5:c.8G>A | ENSP00000428302.1:p.Cys3Tyr | |
| ENST00000522205.5:c.*44G>A | ENSP00000428903.1:n.*44G>A | |
| NM_001123226.1:c.230G>A | NP_001116698.1:p.Cys77Tyr | |
| NM_012123.3:c.230G>A | NP_036255.2:p.Cys77Tyr | |
| NM_133645.2:c.230G>A | NP_598400.1:p.Cys77Tyr | |
| XM_006715444.2:c.8G>A | XP_006715507.1:p.Cys3Tyr | |
| XM_006715445.2:c.8G>A | XP_006715508.1:p.Cys3Tyr | |
| XM_006715446.2:c.230G>A | XP_006715509.1:p.Cys77Tyr | |
| XM_006715447.2:c.230G>A | XP_006715510.1:p.Cys77Tyr | |
| XM_011535723.1:c.-280G>A | XP_011534025.1:n.-280G>A | |
| XM_011535724.1:c.-280G>A | XP_011534026.1:n.-280G>A | |
| XM_011535725.1:c.-280G>A | XP_011534027.1:n.-280G>A | |
| NM_001123226.2:c.230G>A | NP_001116698.1:p.Cys77Tyr | |
| NM_012123.4:c.230G>A MANE Select | NP_036255.2:p.Cys77Tyr | |
| NM_133645.3:c.230G>A | NP_598400.1:p.Cys77Tyr |