Linked Data
ClinVar Variation Id:
202613
dbSNP Id:
rs370418677
ExAC:
2:179504506 G / A
gnomAD v2:
2-179504506-G-A
gnomAD v3:
2-178639779-G-A
gnomAD v4:
2-178639779-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178639779G>A , CM000664.2:g.178639779G>A | GRCh38 |
| NC_000002.11:g.179504506G>A , CM000664.1:g.179504506G>A | GRCh37 |
| NC_000002.10:g.179212751G>A | NCBI36 |
| NG_011618.3:g.196024C>T , LRG_391:g.196024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33092C>T | ENSP00000343764.6:p.Thr11031Ile | |
| ENST00000342175.11:c.14177C>T | ENSP00000340554.6:p.Thr4726Ile | |
| ENST00000359218.10:c.13976C>T | ENSP00000352154.5:p.Thr4659Ile | |
| ENST00000342175.10:c.14177C>T | ENSP00000340554.6:p.Thr4726Ile | |
| ENST00000342992.10:c.33092C>T | ENSP00000343764.6:p.Thr11031Ile | |
| ENST00000359218.9:c.13976C>T | ENSP00000352154.5:p.Thr4659Ile | |
| ENST00000414766.5:c.2759C>T | ENSP00000401501.1:p.Thr920Ile | |
| ENST00000426232.5:c.759C>T | ||
| ENST00000460472.6:c.13601C>T | ENSP00000434586.1:p.Thr4534Ile | |
| ENST00000589042.5:c.40796C>T MANE Select | ENSP00000467141.1:p.Thr13599Ile | |
| ENST00000591111.5:c.35873C>T | ENSP00000465570.1:p.Thr11958Ile | |
| ENST00000615779.4:c.35873C>T | ENSP00000483597.1:p.Thr11958Ile | |
| NM_001256850.1:c.35873C>T | NP_001243779.1:p.Thr11958Ile | |
| NM_001267550.2:c.40796C>T MANE Select | NP_001254479.2:p.Thr13599Ile | |
| NM_003319.4:c.13601C>T | NP_003310.4:p.Thr4534Ile | |
| NM_133378.4:c.33092C>T | NP_596869.4:p.Thr11031Ile | |
| NM_133432.3:c.13976C>T | NP_597676.3:p.Thr4659Ile | |
| NM_133437.4:c.14177C>T | NP_597681.4:p.Thr4726Ile | |
| XM_011511729.1:c.39893C>T | XP_011510031.1:p.Thr13298Ile | |
| XM_011511730.1:c.13787C>T | XP_011510032.1:p.Thr4596Ile | |
| XM_011511731.1:c.13646C>T | XP_011510033.1:p.Thr4549Ile | |
| XM_017004819.1:c.39689C>T | XP_016860308.1:p.Thr13230Ile | |
| XM_017004820.1:c.35087C>T | XP_016860309.1:p.Thr11696Ile | |
| XM_017004821.1:c.35084C>T | XP_016860310.1:p.Thr11695Ile | |
| XM_017004822.1:c.32177C>T | XP_016860311.1:p.Thr10726Ile | |
| XM_017004823.1:c.13742C>T | XP_016860312.1:p.Thr4581Ile | |
| XM_024453094.1:c.35237C>T | XP_024308862.1:p.Thr11746Ile | |
| XM_024453095.1:c.35234C>T | XP_024308863.1:p.Thr11745Ile | |
| XM_024453096.1:c.34667C>T | XP_024308864.1:p.Thr11556Ile | |
| XM_024453097.1:c.32009C>T | XP_024308865.1:p.Thr10670Ile | |
| XM_024453098.1:c.31928C>T | XP_024308866.1:p.Thr10643Ile | |
| XM_024453099.1:c.13742C>T | XP_024308867.1:p.Thr4581Ile | |
| XM_024453100.1:c.3545C>T | XP_024308868.1:p.Thr1182Ile |