Linked Data
ClinVar Variation Id:
404855
dbSNP Id:
rs755669336
ExAC:
2:179440214 C / T
gnomAD v2:
2-179440214-C-T
gnomAD v3:
2-178575487-C-T
gnomAD v4:
2-178575487-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575487C>T , CM000664.2:g.178575487C>T | GRCh38 |
| NC_000002.11:g.179440214C>T , CM000664.1:g.179440214C>T | GRCh37 |
| NC_000002.10:g.179148460C>T | NCBI36 |
| NG_011618.3:g.260316G>A , LRG_391:g.260316G>A | |
| NG_051363.1:g.57661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62941G>A (TTN) | ENSP00000343764.6:p.Val20981Ile | |
| ENST00000342175.11:c.44026G>A (TTN) | ENSP00000340554.6:p.Val14676Ile | |
| ENST00000359218.10:c.43825G>A (TTN) | ENSP00000352154.5:p.Val14609Ile | |
| ENST00000342175.10:c.44026G>A (TTN) | ENSP00000340554.6:p.Val14676Ile | |
| ENST00000342992.10:c.62941G>A (TTN) | ENSP00000343764.6:p.Val20981Ile | |
| ENST00000359218.9:c.43825G>A (TTN) | ENSP00000352154.5:p.Val14609Ile | |
| ENST00000460472.6:c.43450G>A (TTN) | ENSP00000434586.1:p.Val14484Ile | |
| ENST00000589042.5:c.70645G>A (TTN) MANE Select | ENSP00000467141.1:p.Val23549Ile | |
| ENST00000591111.5:c.65722G>A (TTN) | ENSP00000465570.1:p.Val21908Ile | |
| ENST00000615779.4:c.65722G>A (TTN) | ENSP00000483597.1:p.Val21908Ile | |
| NM_001256850.1:c.65722G>A (TTN) | NP_001243779.1:p.Val21908Ile | |
| NM_001267550.2:c.70645G>A (TTN) MANE Select | NP_001254479.2:p.Val23549Ile | |
| NM_003319.4:c.43450G>A (TTN) | NP_003310.4:p.Val14484Ile | |
| NM_133378.4:c.62941G>A (TTN) | NP_596869.4:p.Val20981Ile | |
| NM_133432.3:c.43825G>A (TTN) | NP_597676.3:p.Val14609Ile | |
| NM_133437.4:c.44026G>A (TTN) | NP_597681.4:p.Val14676Ile | |
| NR_038271.1:n.596+4038C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-7085C>T (TTN-AS1) | ||
| XM_011511729.1:c.69742G>A (TTN) | XP_011510031.1:p.Val23248Ile | |
| XM_011511730.1:c.43636G>A (TTN) | XP_011510032.1:p.Val14546Ile | |
| XM_011511731.1:c.43495G>A (TTN) | XP_011510033.1:p.Val14499Ile | |
| XM_017004819.1:c.69538G>A (TTN) | XP_016860308.1:p.Val23180Ile | |
| XM_017004820.1:c.64936G>A (TTN) | XP_016860309.1:p.Val21646Ile | |
| XM_017004821.1:c.64933G>A (TTN) | XP_016860310.1:p.Val21645Ile | |
| XM_017004822.1:c.61975G>A (TTN) | XP_016860311.1:p.Val20659Ile | |
| XM_017004823.1:c.43591G>A (TTN) | XP_016860312.1:p.Val14531Ile | |
| XM_024453094.1:c.65086G>A (TTN) | XP_024308862.1:p.Val21696Ile | |
| XM_024453095.1:c.65083G>A (TTN) | XP_024308863.1:p.Val21695Ile | |
| XM_024453096.1:c.64516G>A (TTN) | XP_024308864.1:p.Val21506Ile | |
| XM_024453097.1:c.61858G>A (TTN) | XP_024308865.1:p.Val20620Ile | |
| XM_024453098.1:c.61777G>A (TTN) | XP_024308866.1:p.Val20593Ile | |
| XM_024453099.1:c.43540G>A (TTN) | XP_024308867.1:p.Val14514Ile | |
| XM_024453100.1:c.33394G>A (TTN) | XP_024308868.1:p.Val11132Ile |