Linked Data
ClinVar Variation Id:
138275
dbSNP Id:
rs115654622
ExAC:
6:74191870 T / C
gnomAD v2:
6-74191870-T-C
gnomAD v3:
6-73482147-T-C
gnomAD v4:
6-73482147-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73482147T>C , CM000668.2:g.73482147T>C | GRCh38 |
| NC_000006.11:g.74191870T>C , CM000668.1:g.74191870T>C | GRCh37 |
| NC_000006.10:g.74248591T>C | NCBI36 |
| NG_032856.1:g.25417T>C | |
| NG_032856.2:g.25417T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442897.7:c.*499T>C | ENSP00000396529.2:n.*499T>C | |
| ENST00000445187.6:c.*510T>C | ENSP00000407580.2:n.*510T>C | |
| ENST00000487960.2:n.1450T>C | ||
| ENST00000498286.6:c.1368T>C MANE Select | ENSP00000419561.2:p.Thr456= | |
| ENST00000521156.6:c.1146T>C | ENSP00000428863.2:p.Thr382= | |
| ENST00000522205.6:c.*911T>C | ENSP00000428903.2:n.*911T>C | |
| ENST00000523763.2:c.1368T>C | ENSP00000429595.2:p.Thr456= | |
| ENST00000524046.2:c.*961T>C | ENSP00000430660.2:n.*961T>C | |
| ENST00000679352.1:c.*740T>C | ENSP00000505776.1:n.*740T>C | |
| ENST00000679364.1:c.*510T>C | ENSP00000505626.1:n.*510T>C | |
| ENST00000679411.1:c.*1163T>C | ENSP00000506532.1:n.*1163T>C | |
| ENST00000679418.1:c.*922T>C | ENSP00000505278.1:n.*922T>C | |
| ENST00000679524.1:c.*622T>C | ENSP00000505038.1:n.*622T>C | |
| ENST00000679591.1:c.1361T>C | ENSP00000505656.1:n.1361T>C | |
| ENST00000679592.1:c.*1182T>C | ENSP00000505736.1:n.*1182T>C | |
| ENST00000679604.1:c.*608-302T>C | ENSP00000506268.1:n.*608-302T>C | |
| ENST00000679612.1:n.1733T>C | ||
| ENST00000679627.1:c.*212T>C | ENSP00000505373.1:n.*212T>C | |
| ENST00000679675.1:c.1336-302T>C | ENSP00000505458.1:n.1336-302T>C | |
| ENST00000679730.1:c.*502-302T>C | ENSP00000506698.1:n.*502-302T>C | |
| ENST00000679808.1:c.*185T>C | ENSP00000506127.1:n.*185T>C | |
| ENST00000679870.1:c.*922T>C | ENSP00000505401.1:n.*922T>C | |
| ENST00000679900.1:c.*412T>C | ENSP00000505653.1:n.*412T>C | |
| ENST00000679905.1:c.1261-302T>C | ENSP00000505787.1:n.1261-302T>C | |
| ENST00000679947.1:c.*212T>C | ENSP00000506630.1:n.*212T>C | |
| ENST00000679993.1:n.1447T>C | ||
| ENST00000680034.1:c.*615T>C | ENSP00000505785.1:n.*615T>C | |
| ENST00000680131.1:c.*101T>C | ENSP00000505906.1:n.*101T>C | |
| ENST00000680195.1:n.1565T>C | ||
| ENST00000680238.1:c.*911T>C | ENSP00000506260.1:n.*911T>C | |
| ENST00000680266.1:n.1733T>C | ||
| ENST00000680289.1:c.*911T>C | ENSP00000505097.1:n.*911T>C | |
| ENST00000680350.1:n.1625+1342T>C | ||
| ENST00000680405.1:n.1700T>C | ||
| ENST00000680428.1:c.*325T>C | ENSP00000506210.1:n.*325T>C | |
| ENST00000680544.1:c.*804-302T>C | ENSP00000506702.1:n.*804-302T>C | |
| ENST00000680563.1:c.1027T>C | ||
| ENST00000680570.1:n.1744T>C | ||
| ENST00000680601.1:c.*892T>C | ENSP00000506582.1:n.*892T>C | |
| ENST00000680609.1:c.*499T>C | ENSP00000505053.1:n.*499T>C | |
| ENST00000680686.1:c.1146T>C | ENSP00000506609.1:p.Thr382= | |
| ENST00000680758.1:c.*1133T>C | ENSP00000505192.1:n.*1133T>C | |
| ENST00000680775.1:c.*746T>C | ENSP00000505199.1:n.*746T>C | |
| ENST00000680794.1:c.*1045-302T>C | ENSP00000506362.1:n.*1045-302T>C | |
| ENST00000680841.1:c.1347T>C | ENSP00000506524.1:n.1347T>C | |
| ENST00000680875.1:c.*78-302T>C | ENSP00000506042.1:n.*78-302T>C | |
| ENST00000680902.1:c.*339T>C | ENSP00000505813.1:n.*339T>C | |
| ENST00000681094.1:c.*185T>C | ENSP00000505394.1:n.*185T>C | |
| ENST00000681141.1:c.*854-302T>C | ENSP00000506035.1:n.*854-302T>C | |
| ENST00000681165.1:c.*922T>C | ENSP00000506088.1:n.*922T>C | |
| ENST00000681204.1:c.1368T>C | ENSP00000505819.1:p.Thr456= | |
| ENST00000681212.1:n.1742-302T>C | ||
| ENST00000681254.1:c.*1027T>C | ENSP00000506575.1:n.*1027T>C | |
| ENST00000681267.1:c.*78-302T>C | ENSP00000506570.1:n.*78-302T>C | |
| ENST00000681284.1:n.1733T>C | ||
| ENST00000681294.1:c.*325T>C | ENSP00000505615.1:n.*325T>C | |
| ENST00000681337.1:c.*185T>C | ENSP00000506108.1:n.*185T>C | |
| ENST00000681438.1:c.*391+1342T>C | ENSP00000505135.1:n.*391+1342T>C | |
| ENST00000681500.1:c.1086T>C | ENSP00000506439.1:p.Thr362= | |
| ENST00000681509.1:c.*101T>C | ENSP00000506571.1:n.*101T>C | |
| ENST00000681579.1:c.1039-302T>C | ENSP00000505732.1:n.1039-302T>C | |
| ENST00000681610.1:c.1260+1342T>C | ENSP00000505229.1:n.1260+1342T>C | |
| ENST00000681620.1:c.*105-302T>C | ENSP00000505386.1:n.*105-302T>C | |
| ENST00000681624.1:c.*1135T>C | ENSP00000505820.1:n.*1135T>C | |
| ENST00000681691.1:c.1368T>C | ENSP00000505613.1:p.Thr456= | |
| ENST00000681705.1:c.*101T>C | ENSP00000506381.1:n.*101T>C | |
| ENST00000681890.1:c.*101T>C | ENSP00000505751.1:n.*101T>C | |
| ENST00000681932.1:c.*681T>C | ENSP00000505826.1:n.*681T>C | |
| ENST00000370300.8:c.1443T>C | ENSP00000359323.4:p.Thr481= | |
| ENST00000370305.5:c.1221T>C | ENSP00000359328.1:p.Thr407= | |
| ENST00000370308.8:n.1549T>C | ||
| ENST00000415228.5:c.*499T>C | ENSP00000416397.1:n.*499T>C | |
| ENST00000415954.6:c.1488T>C | ENSP00000402038.2:p.Thr496= | |
| ENST00000445187.5:c.482T>C | ENSP00000407580.1:n.482T>C | |
| ENST00000462039.5:n.1390T>C | ||
| ENST00000498286.5:c.1368T>C | ENSP00000419561.1:p.Thr456= | |
| ENST00000521156.5:c.33T>C | ENSP00000428863.1:p.Thr11= | |
| ENST00000523763.1:c.16T>C | ||
| ENST00000524046.1:c.204-302T>C | ||
| NM_001123226.1:c.1488T>C | NP_001116698.1:p.Thr496= | |
| NM_012123.3:c.1368T>C | NP_036255.2:p.Thr456= | |
| NM_133645.2:c.1443T>C | NP_598400.1:p.Thr481= | |
| XM_006715444.2:c.1146T>C | XP_006715507.1:p.Thr382= | |
| XM_006715445.2:c.1146T>C | XP_006715508.1:p.Thr382= | |
| XM_006715446.2:c.1368T>C | XP_006715509.1:p.Thr456= | |
| XM_011535723.1:c.957T>C | XP_011534025.1:p.Thr319= | |
| XM_011535724.1:c.957T>C | XP_011534026.1:p.Thr319= | |
| XM_011535725.1:c.957T>C | XP_011534027.1:p.Thr319= | |
| NM_001123226.2:c.1488T>C | NP_001116698.1:p.Thr496= | |
| NM_012123.4:c.1368T>C MANE Select | NP_036255.2:p.Thr456= | |
| NM_133645.3:c.1443T>C | NP_598400.1:p.Thr481= |