Linked Data
ClinVar Variation Id:
203108
dbSNP Id:
rs754459138
ExAC:
2:179393551 C / T
gnomAD v2:
2-179393551-C-T
gnomAD v3:
2-178528824-C-T
gnomAD v4:
2-178528824-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528824C>T , CM000664.2:g.178528824C>T | GRCh38 |
| NC_000002.11:g.179393551C>T , CM000664.1:g.179393551C>T | GRCh37 |
| NC_000002.10:g.179101797C>T | NCBI36 |
| NG_011618.3:g.306979G>A , LRG_391:g.306979G>A | |
| NG_051363.1:g.10998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99223G>A (TTN) | ENSP00000343764.6:p.Val33075Ile | |
| ENST00000342175.11:c.80308G>A (TTN) | ENSP00000340554.6:p.Val26770Ile | |
| ENST00000359218.10:c.80107G>A (TTN) | ENSP00000352154.5:p.Val26703Ile | |
| ENST00000342175.10:c.80308G>A (TTN) | ENSP00000340554.6:p.Val26770Ile | |
| ENST00000342992.10:c.99223G>A (TTN) | ENSP00000343764.6:p.Val33075Ile | |
| ENST00000359218.9:c.80107G>A (TTN) | ENSP00000352154.5:p.Val26703Ile | |
| ENST00000460472.6:c.79732G>A (TTN) | ENSP00000434586.1:p.Val26578Ile | |
| ENST00000589042.5:c.106927G>A (TTN) MANE Select | ENSP00000467141.1:p.Val35643Ile | |
| ENST00000591111.5:c.102004G>A (TTN) | ENSP00000465570.1:p.Val34002Ile | |
| ENST00000615779.4:c.102004G>A (TTN) | ENSP00000483597.1:p.Val34002Ile | |
| NM_001256850.1:c.102004G>A (TTN) | NP_001243779.1:p.Val34002Ile | |
| NM_001267550.2:c.106927G>A (TTN) MANE Select | NP_001254479.2:p.Val35643Ile | |
| NM_003319.4:c.79732G>A (TTN) | NP_003310.4:p.Val26578Ile | |
| NM_133378.4:c.99223G>A (TTN) | NP_596869.4:p.Val33075Ile | |
| NM_133432.3:c.80107G>A (TTN) | NP_597676.3:p.Val26703Ile | |
| NM_133437.4:c.80308G>A (TTN) | NP_597681.4:p.Val26770Ile | |
| NR_038271.1:n.446+5188C>T (TTN-AS1) | ||
| NR_038272.1:n.219+5188C>T (TTN-AS1) | ||
| XM_011511729.1:c.106024G>A (TTN) | XP_011510031.1:p.Val35342Ile | |
| XM_011511730.1:c.79918G>A (TTN) | XP_011510032.1:p.Val26640Ile | |
| XM_011511731.1:c.79777G>A (TTN) | XP_011510033.1:p.Val26593Ile | |
| XM_017004819.1:c.105820G>A (TTN) | XP_016860308.1:p.Val35274Ile | |
| XM_017004820.1:c.101218G>A (TTN) | XP_016860309.1:p.Val33740Ile | |
| XM_017004821.1:c.101215G>A (TTN) | XP_016860310.1:p.Val33739Ile | |
| XM_017004822.1:c.98257G>A (TTN) | XP_016860311.1:p.Val32753Ile | |
| XM_017004823.1:c.79873G>A (TTN) | XP_016860312.1:p.Val26625Ile | |
| XM_024453094.1:c.101368G>A (TTN) | XP_024308862.1:p.Val33790Ile | |
| XM_024453095.1:c.101365G>A (TTN) | XP_024308863.1:p.Val33789Ile | |
| XM_024453096.1:c.100798G>A (TTN) | XP_024308864.1:p.Val33600Ile | |
| XM_024453097.1:c.98140G>A (TTN) | XP_024308865.1:p.Val32714Ile | |
| XM_024453098.1:c.98059G>A (TTN) | XP_024308866.1:p.Val32687Ile | |
| XM_024453099.1:c.79822G>A (TTN) | XP_024308867.1:p.Val26608Ile | |
| XM_024453100.1:c.69676G>A (TTN) | XP_024308868.1:p.Val23226Ile |