Linked Data
ClinVar Variation Id:
408272
dbSNP Id:
rs748152539
ExAC:
6:74191952 C / T
gnomAD v2:
6-74191952-C-T
gnomAD v3:
6-73482229-C-T
gnomAD v4:
6-73482229-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73482229C>T , CM000668.2:g.73482229C>T | GRCh38 |
| NC_000006.11:g.74191952C>T , CM000668.1:g.74191952C>T | GRCh37 |
| NC_000006.10:g.74248673C>T | NCBI36 |
| NG_032856.1:g.25499C>T | |
| NG_032856.2:g.25499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442897.7:c.*581C>T | ENSP00000396529.2:n.*581C>T | |
| ENST00000445187.6:c.*592C>T | ENSP00000407580.2:n.*592C>T | |
| ENST00000487960.2:n.1532C>T | ||
| ENST00000498286.6:c.1450C>T MANE Select | ENSP00000419561.2:p.Arg484Trp | |
| ENST00000521156.6:c.1228C>T | ENSP00000428863.2:p.Arg410Trp | |
| ENST00000522205.6:c.*993C>T | ENSP00000428903.2:n.*993C>T | |
| ENST00000523763.2:c.1450C>T | ENSP00000429595.2:p.Arg484Trp | |
| ENST00000524046.2:c.*1043C>T | ENSP00000430660.2:n.*1043C>T | |
| ENST00000679352.1:c.*822C>T | ENSP00000505776.1:n.*822C>T | |
| ENST00000679364.1:c.*592C>T | ENSP00000505626.1:n.*592C>T | |
| ENST00000679411.1:c.*1245C>T | ENSP00000506532.1:n.*1245C>T | |
| ENST00000679418.1:c.*1004C>T | ENSP00000505278.1:n.*1004C>T | |
| ENST00000679524.1:c.*704C>T | ENSP00000505038.1:n.*704C>T | |
| ENST00000679591.1:c.1443C>T | ENSP00000505656.1:n.1443C>T | |
| ENST00000679592.1:c.*1264C>T | ENSP00000505736.1:n.*1264C>T | |
| ENST00000679604.1:c.*608-220C>T | ENSP00000506268.1:n.*608-220C>T | |
| ENST00000679612.1:n.1815C>T | ||
| ENST00000679627.1:c.*294C>T | ENSP00000505373.1:n.*294C>T | |
| ENST00000679675.1:c.1336-220C>T | ENSP00000505458.1:n.1336-220C>T | |
| ENST00000679730.1:c.*502-220C>T | ENSP00000506698.1:n.*502-220C>T | |
| ENST00000679808.1:c.*267C>T | ENSP00000506127.1:n.*267C>T | |
| ENST00000679870.1:c.*1004C>T | ENSP00000505401.1:n.*1004C>T | |
| ENST00000679900.1:c.*494C>T | ENSP00000505653.1:n.*494C>T | |
| ENST00000679905.1:c.1261-220C>T | ENSP00000505787.1:n.1261-220C>T | |
| ENST00000679947.1:c.*294C>T | ENSP00000506630.1:n.*294C>T | |
| ENST00000679993.1:n.1529C>T | ||
| ENST00000680034.1:c.*697C>T | ENSP00000505785.1:n.*697C>T | |
| ENST00000680131.1:c.*183C>T | ENSP00000505906.1:n.*183C>T | |
| ENST00000680195.1:n.1647C>T | ||
| ENST00000680238.1:c.*993C>T | ENSP00000506260.1:n.*993C>T | |
| ENST00000680266.1:n.1815C>T | ||
| ENST00000680289.1:c.*993C>T | ENSP00000505097.1:n.*993C>T | |
| ENST00000680350.1:n.1625+1424C>T | ||
| ENST00000680405.1:n.1782C>T | ||
| ENST00000680428.1:c.*407C>T | ENSP00000506210.1:n.*407C>T | |
| ENST00000680544.1:c.*804-220C>T | ENSP00000506702.1:n.*804-220C>T | |
| ENST00000680563.1:c.1109C>T | ||
| ENST00000680570.1:n.1826C>T | ||
| ENST00000680601.1:c.*974C>T | ENSP00000506582.1:n.*974C>T | |
| ENST00000680609.1:c.*581C>T | ENSP00000505053.1:n.*581C>T | |
| ENST00000680686.1:c.1228C>T | ENSP00000506609.1:p.Arg410Trp | |
| ENST00000680758.1:c.*1215C>T | ENSP00000505192.1:n.*1215C>T | |
| ENST00000680775.1:c.*828C>T | ENSP00000505199.1:n.*828C>T | |
| ENST00000680794.1:c.*1045-220C>T | ENSP00000506362.1:n.*1045-220C>T | |
| ENST00000680841.1:c.1429C>T | ENSP00000506524.1:n.1429C>T | |
| ENST00000680875.1:c.*78-220C>T | ENSP00000506042.1:n.*78-220C>T | |
| ENST00000680902.1:c.*421C>T | ENSP00000505813.1:n.*421C>T | |
| ENST00000681094.1:c.*267C>T | ENSP00000505394.1:n.*267C>T | |
| ENST00000681141.1:c.*854-220C>T | ENSP00000506035.1:n.*854-220C>T | |
| ENST00000681165.1:c.*1004C>T | ENSP00000506088.1:n.*1004C>T | |
| ENST00000681204.1:c.1450C>T | ENSP00000505819.1:p.Arg484Trp | |
| ENST00000681212.1:n.1742-220C>T | ||
| ENST00000681254.1:c.*1109C>T | ENSP00000506575.1:n.*1109C>T | |
| ENST00000681267.1:c.*78-220C>T | ENSP00000506570.1:n.*78-220C>T | |
| ENST00000681284.1:n.1815C>T | ||
| ENST00000681294.1:c.*407C>T | ENSP00000505615.1:n.*407C>T | |
| ENST00000681337.1:c.*267C>T | ENSP00000506108.1:n.*267C>T | |
| ENST00000681438.1:c.*391+1424C>T | ENSP00000505135.1:n.*391+1424C>T | |
| ENST00000681500.1:c.1168C>T | ENSP00000506439.1:p.Arg390Trp | |
| ENST00000681509.1:c.*183C>T | ENSP00000506571.1:n.*183C>T | |
| ENST00000681579.1:c.1039-220C>T | ENSP00000505732.1:n.1039-220C>T | |
| ENST00000681610.1:c.1260+1424C>T | ENSP00000505229.1:n.1260+1424C>T | |
| ENST00000681620.1:c.*105-220C>T | ENSP00000505386.1:n.*105-220C>T | |
| ENST00000681624.1:c.*1217C>T | ENSP00000505820.1:n.*1217C>T | |
| ENST00000681691.1:c.1450C>T | ENSP00000505613.1:p.Arg484Trp | |
| ENST00000681705.1:c.*183C>T | ENSP00000506381.1:n.*183C>T | |
| ENST00000681890.1:c.*183C>T | ENSP00000505751.1:n.*183C>T | |
| ENST00000681932.1:c.*763C>T | ENSP00000505826.1:n.*763C>T | |
| ENST00000370300.8:c.1525C>T | ENSP00000359323.4:p.Arg509Trp | |
| ENST00000370305.5:c.1303C>T | ENSP00000359328.1:p.Arg435Trp | |
| ENST00000370308.8:n.1631C>T | ||
| ENST00000415228.5:c.*581C>T | ENSP00000416397.1:n.*581C>T | |
| ENST00000415954.6:c.1570C>T | ENSP00000402038.2:p.Arg524Trp | |
| ENST00000445187.5:c.564C>T | ENSP00000407580.1:n.564C>T | |
| ENST00000462039.5:n.1472C>T | ||
| ENST00000498286.5:c.1450C>T | ENSP00000419561.1:p.Arg484Trp | |
| ENST00000521156.5:c.115C>T | ENSP00000428863.1:p.Arg39Trp | |
| ENST00000523763.1:c.98C>T | ||
| ENST00000524046.1:c.204-220C>T | ||
| NM_001123226.1:c.1570C>T | NP_001116698.1:p.Arg524Trp | |
| NM_012123.3:c.1450C>T | NP_036255.2:p.Arg484Trp | |
| NM_133645.2:c.1525C>T | NP_598400.1:p.Arg509Trp | |
| XM_006715444.2:c.1228C>T | XP_006715507.1:p.Arg410Trp | |
| XM_006715445.2:c.1228C>T | XP_006715508.1:p.Arg410Trp | |
| XM_006715446.2:c.1450C>T | XP_006715509.1:p.Arg484Trp | |
| XM_011535723.1:c.1039C>T | XP_011534025.1:p.Arg347Trp | |
| XM_011535724.1:c.1039C>T | XP_011534026.1:p.Arg347Trp | |
| XM_011535725.1:c.1039C>T | XP_011534027.1:p.Arg347Trp | |
| NM_001123226.2:c.1570C>T | NP_001116698.1:p.Arg524Trp | |
| NM_012123.4:c.1450C>T MANE Select | NP_036255.2:p.Arg484Trp | |
| NM_133645.3:c.1525C>T | NP_598400.1:p.Arg509Trp |