Linked Data
ClinVar Variation Id:
355042
dbSNP Id:
rs201744761
ExAC:
6:110098237 C / A
gnomAD v2:
6-110098237-C-A
gnomAD v3:
6-109777034-C-A
gnomAD v4:
6-109777034-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109777034C>A , CM000668.2:g.109777034C>A | GRCh38 |
| NC_000006.11:g.110098237C>A , CM000668.1:g.110098237C>A | GRCh37 |
| NC_000006.10:g.110204930C>A | NCBI36 |
| NG_007977.1:g.90814C>A , LRG_241:g.90814C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.1863C>A MANE Select | ENSP00000230124.4:p.Thr621= | |
| ENST00000415980.2:c.369C>A | ENSP00000405660.2:p.Thr123= | |
| ENST00000674532.1:n.5059C>A | ||
| ENST00000674557.1:c.*1183-7936C>A | ENSP00000501608.1:n.*1183-7936C>A | |
| ENST00000674569.1:c.*982C>A | ENSP00000502769.1:n.*982C>A | |
| ENST00000674571.1:c.*982C>A | ENSP00000501633.1:n.*982C>A | |
| ENST00000674575.1:c.*982C>A | ENSP00000502276.1:n.*982C>A | |
| ENST00000674641.1:c.1518C>A | ENSP00000501609.1:p.Thr506= | |
| ENST00000674644.1:c.933C>A | ENSP00000502201.1:p.Thr311= | |
| ENST00000674649.1:c.*1556C>A | ENSP00000501669.1:n.*1556C>A | |
| ENST00000674657.1:c.*1295C>A | ENSP00000502314.1:n.*1295C>A | |
| ENST00000674744.1:c.1857C>A | ENSP00000501661.1:p.Thr619= | |
| ENST00000674778.1:c.*982C>A | ENSP00000502742.1:n.*982C>A | |
| ENST00000674783.1:c.*778C>A | ENSP00000502755.1:n.*778C>A | |
| ENST00000674884.1:c.1881C>A | ENSP00000502668.1:p.Thr627= | |
| ENST00000674930.1:c.*988C>A | ENSP00000502657.1:n.*988C>A | |
| ENST00000674933.1:c.1632C>A | ENSP00000502376.1:p.Thr544= | |
| ENST00000674956.1:c.*1077C>A | ENSP00000501904.1:n.*1077C>A | |
| ENST00000675004.1:c.*1815C>A | ENSP00000501868.1:n.*1815C>A | |
| ENST00000675009.1:c.*1247C>A | ENSP00000502098.1:n.*1247C>A | |
| ENST00000675096.1:c.1863C>A | ENSP00000502116.1:p.Thr621= | |
| ENST00000675122.1:c.1863C>A | ENSP00000501810.1:p.Thr621= | |
| ENST00000675153.1:c.*580C>A | ENSP00000501682.1:n.*580C>A | |
| ENST00000675272.1:n.6161C>A | ||
| ENST00000675284.1:c.1863C>A | ENSP00000502758.1:p.Thr621= | |
| ENST00000675301.1:n.520C>A | ||
| ENST00000675311.1:c.*1065C>A | ENSP00000501961.1:n.*1065C>A | |
| ENST00000675426.1:c.*931C>A | ENSP00000501819.1:n.*931C>A | |
| ENST00000675523.1:c.1632C>A | ENSP00000502384.1:p.Thr544= | |
| ENST00000675552.1:c.*982C>A | ENSP00000502197.1:n.*982C>A | |
| ENST00000675714.1:c.1863C>A | ENSP00000502561.1:p.Thr621= | |
| ENST00000675726.1:c.1863C>A | ENSP00000502452.1:p.Thr621= | |
| ENST00000675772.1:c.1863C>A | ENSP00000501678.1:p.Thr621= | |
| ENST00000675831.1:c.1470C>A | ENSP00000502382.1:p.Thr490= | |
| ENST00000675849.1:n.1485C>A | ||
| ENST00000675879.1:c.592C>A | ||
| ENST00000675887.1:c.*1466C>A | ENSP00000502123.1:n.*1466C>A | |
| ENST00000675954.1:n.3196C>A | ||
| ENST00000675991.1:c.*982C>A | ENSP00000502162.1:n.*982C>A | |
| ENST00000675994.1:c.*870-7936C>A | ENSP00000502419.1:n.*870-7936C>A | |
| ENST00000676021.1:c.*468-7936C>A | ENSP00000502746.1:n.*468-7936C>A | |
| ENST00000676037.1:c.1863C>A | ENSP00000502181.1:p.Thr621= | |
| ENST00000676136.1:n.2003C>A | ||
| ENST00000676442.1:c.1734C>A | ENSP00000502595.1:p.Thr578= | |
| ENST00000230124.7:c.1863C>A | ENSP00000230124.3:p.Thr621= | |
| ENST00000415980.1:c.280C>A | ||
| NM_014845.5:c.1863C>A , LRG_241t1:c.1863C>A | NP_055660.1:p.Thr621= | |
| XM_011536281.1:c.1800C>A | XP_011534583.1:p.Thr600= | |
| XM_011536281.3:c.1800C>A | XP_011534583.1:p.Thr600= | |
| XM_017011591.2:c.1863C>A | XP_016867080.1:p.Thr621= | |
| XM_017011592.1:c.1314C>A | XP_016867081.1:p.Thr438= | |
| XM_017011593.2:c.933C>A | XP_016867082.1:p.Thr311= | |
| NM_014845.6:c.1863C>A MANE Select | NP_055660.1:p.Thr621= |