Linked Data
ClinVar Variation Id:
178204
dbSNP Id:
rs367816473
ExAC:
2:179458139 G / A
gnomAD v2:
2-179458139-G-A
gnomAD v3:
2-178593412-G-A
gnomAD v4:
2-178593412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593412G>A , CM000664.2:g.178593412G>A | GRCh38 |
| NC_000002.11:g.179458139G>A , CM000664.1:g.179458139G>A | GRCh37 |
| NC_000002.10:g.179166385G>A | NCBI36 |
| NG_011618.3:g.242391C>T , LRG_391:g.242391C>T | |
| NG_051363.1:g.75586G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51092C>T (TTN) | ENSP00000343764.6:p.Thr17031Ile | |
| ENST00000342175.11:c.32177C>T (TTN) | ENSP00000340554.6:p.Thr10726Ile | |
| ENST00000359218.10:c.31976C>T (TTN) | ENSP00000352154.5:p.Thr10659Ile | |
| ENST00000342175.10:c.32177C>T (TTN) | ENSP00000340554.6:p.Thr10726Ile | |
| ENST00000342992.10:c.51092C>T (TTN) | ENSP00000343764.6:p.Thr17031Ile | |
| ENST00000359218.9:c.31976C>T (TTN) | ENSP00000352154.5:p.Thr10659Ile | |
| ENST00000460472.6:c.31601C>T (TTN) | ENSP00000434586.1:p.Thr10534Ile | |
| ENST00000589042.5:c.58796C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr19599Ile | |
| ENST00000591111.5:c.53873C>T (TTN) | ENSP00000465570.1:p.Thr17958Ile | |
| ENST00000615779.4:c.53873C>T (TTN) | ENSP00000483597.1:p.Thr17958Ile | |
| NM_001256850.1:c.53873C>T (TTN) | NP_001243779.1:p.Thr17958Ile | |
| NM_001267550.2:c.58796C>T (TTN) MANE Select | NP_001254479.2:p.Thr19599Ile | |
| NM_003319.4:c.31601C>T (TTN) | NP_003310.4:p.Thr10534Ile | |
| NM_133378.4:c.51092C>T (TTN) | NP_596869.4:p.Thr17031Ile | |
| NM_133432.3:c.31976C>T (TTN) | NP_597676.3:p.Thr10659Ile | |
| NM_133437.4:c.32177C>T (TTN) | NP_597681.4:p.Thr10726Ile | |
| NR_038271.1:n.597-4184G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+2098G>A (TTN-AS1) | ||
| XM_011511729.1:c.57893C>T (TTN) | XP_011510031.1:p.Thr19298Ile | |
| XM_011511730.1:c.31787C>T (TTN) | XP_011510032.1:p.Thr10596Ile | |
| XM_011511731.1:c.31646C>T (TTN) | XP_011510033.1:p.Thr10549Ile | |
| XM_017004819.1:c.57689C>T (TTN) | XP_016860308.1:p.Thr19230Ile | |
| XM_017004820.1:c.53087C>T (TTN) | XP_016860309.1:p.Thr17696Ile | |
| XM_017004821.1:c.53084C>T (TTN) | XP_016860310.1:p.Thr17695Ile | |
| XM_017004822.1:c.50126C>T (TTN) | XP_016860311.1:p.Thr16709Ile | |
| XM_017004823.1:c.31742C>T (TTN) | XP_016860312.1:p.Thr10581Ile | |
| XM_024453094.1:c.53237C>T (TTN) | XP_024308862.1:p.Thr17746Ile | |
| XM_024453095.1:c.53234C>T (TTN) | XP_024308863.1:p.Thr17745Ile | |
| XM_024453096.1:c.52667C>T (TTN) | XP_024308864.1:p.Thr17556Ile | |
| XM_024453097.1:c.50009C>T (TTN) | XP_024308865.1:p.Thr16670Ile | |
| XM_024453098.1:c.49928C>T (TTN) | XP_024308866.1:p.Thr16643Ile | |
| XM_024453099.1:c.31691C>T (TTN) | XP_024308867.1:p.Thr10564Ile | |
| XM_024453100.1:c.21545C>T (TTN) | XP_024308868.1:p.Thr7182Ile |