Linked Data
ClinVar Variation Id:
413072
dbSNP Id:
rs559712998
ExAC:
2:179466289 C / T
gnomAD v2:
2-179466289-C-T
gnomAD v3:
2-178601562-C-T
gnomAD v4:
2-178601562-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601562C>T , CM000664.2:g.178601562C>T | GRCh38 |
| NC_000002.11:g.179466289C>T , CM000664.1:g.179466289C>T | GRCh37 |
| NC_000002.10:g.179174534C>T | NCBI36 |
| NG_011618.3:g.234241G>A , LRG_391:g.234241G>A | |
| NG_051363.1:g.83736C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47731G>A (TTN) | ENSP00000343764.6:p.Val15911Ile | |
| ENST00000342175.11:c.28816G>A (TTN) | ENSP00000340554.6:p.Val9606Ile | |
| ENST00000359218.10:c.28615G>A (TTN) | ENSP00000352154.5:p.Val9539Ile | |
| ENST00000342175.10:c.28816G>A (TTN) | ENSP00000340554.6:p.Val9606Ile | |
| ENST00000342992.10:c.47731G>A (TTN) | ENSP00000343764.6:p.Val15911Ile | |
| ENST00000359218.9:c.28615G>A (TTN) | ENSP00000352154.5:p.Val9539Ile | |
| ENST00000460472.6:c.28240G>A (TTN) | ENSP00000434586.1:p.Val9414Ile | |
| ENST00000589042.5:c.55435G>A (TTN) MANE Select | ENSP00000467141.1:p.Val18479Ile | |
| ENST00000591111.5:c.50512G>A (TTN) | ENSP00000465570.1:p.Val16838Ile | |
| ENST00000615779.4:c.50512G>A (TTN) | ENSP00000483597.1:p.Val16838Ile | |
| NM_001256850.1:c.50512G>A (TTN) | NP_001243779.1:p.Val16838Ile | |
| NM_001267550.2:c.55435G>A (TTN) MANE Select | NP_001254479.2:p.Val18479Ile | |
| NM_003319.4:c.28240G>A (TTN) | NP_003310.4:p.Val9414Ile | |
| NM_133378.4:c.47731G>A (TTN) | NP_596869.4:p.Val15911Ile | |
| NM_133432.3:c.28615G>A (TTN) | NP_597676.3:p.Val9539Ile | |
| NM_133437.4:c.28816G>A (TTN) | NP_597681.4:p.Val9606Ile | |
| NR_038271.1:n.682+3881C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+895C>T (TTN-AS1) | ||
| XM_011511729.1:c.54532G>A (TTN) | XP_011510031.1:p.Val18178Ile | |
| XM_011511730.1:c.28426G>A (TTN) | XP_011510032.1:p.Val9476Ile | |
| XM_011511731.1:c.28285G>A (TTN) | XP_011510033.1:p.Val9429Ile | |
| XM_017004819.1:c.54328G>A (TTN) | XP_016860308.1:p.Val18110Ile | |
| XM_017004820.1:c.49726G>A (TTN) | XP_016860309.1:p.Val16576Ile | |
| XM_017004821.1:c.49723G>A (TTN) | XP_016860310.1:p.Val16575Ile | |
| XM_017004822.1:c.46765G>A (TTN) | XP_016860311.1:p.Val15589Ile | |
| XM_017004823.1:c.28381G>A (TTN) | XP_016860312.1:p.Val9461Ile | |
| XM_024453094.1:c.49876G>A (TTN) | XP_024308862.1:p.Val16626Ile | |
| XM_024453095.1:c.49873G>A (TTN) | XP_024308863.1:p.Val16625Ile | |
| XM_024453096.1:c.49306G>A (TTN) | XP_024308864.1:p.Val16436Ile | |
| XM_024453097.1:c.46648G>A (TTN) | XP_024308865.1:p.Val15550Ile | |
| XM_024453098.1:c.46567G>A (TTN) | XP_024308866.1:p.Val15523Ile | |
| XM_024453099.1:c.28330G>A (TTN) | XP_024308867.1:p.Val9444Ile | |
| XM_024453100.1:c.18184G>A (TTN) | XP_024308868.1:p.Val6062Ile |