Linked Data
ClinVar Variation Id:
195840
dbSNP Id:
rs368068200
ExAC:
2:179463587 C / T
gnomAD v2:
2-179463587-C-T
gnomAD v3:
2-178598860-C-T
gnomAD v4:
2-178598860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598860C>T , CM000664.2:g.178598860C>T | GRCh38 |
| NC_000002.11:g.179463587C>T , CM000664.1:g.179463587C>T | GRCh37 |
| NC_000002.10:g.179171832C>T | NCBI36 |
| NG_011618.3:g.236943G>A , LRG_391:g.236943G>A | |
| NG_051363.1:g.81034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49146G>A (TTN) | ENSP00000343764.6:p.Val16382= | |
| ENST00000342175.11:c.30231G>A (TTN) | ENSP00000340554.6:p.Val10077= | |
| ENST00000359218.10:c.30030G>A (TTN) | ENSP00000352154.5:p.Val10010= | |
| ENST00000342175.10:c.30231G>A (TTN) | ENSP00000340554.6:p.Val10077= | |
| ENST00000342992.10:c.49146G>A (TTN) | ENSP00000343764.6:p.Val16382= | |
| ENST00000359218.9:c.30030G>A (TTN) | ENSP00000352154.5:p.Val10010= | |
| ENST00000460472.6:c.29655G>A (TTN) | ENSP00000434586.1:p.Val9885= | |
| ENST00000589042.5:c.56850G>A (TTN) MANE Select | ENSP00000467141.1:p.Val18950= | |
| ENST00000591111.5:c.51927G>A (TTN) | ENSP00000465570.1:p.Val17309= | |
| ENST00000615779.4:c.51927G>A (TTN) | ENSP00000483597.1:p.Val17309= | |
| NM_001256850.1:c.51927G>A (TTN) | NP_001243779.1:p.Val17309= | |
| NM_001267550.2:c.56850G>A (TTN) MANE Select | NP_001254479.2:p.Val18950= | |
| NM_003319.4:c.29655G>A (TTN) | NP_003310.4:p.Val9885= | |
| NM_133378.4:c.49146G>A (TTN) | NP_596869.4:p.Val16382= | |
| NM_133432.3:c.30030G>A (TTN) | NP_597676.3:p.Val10010= | |
| NM_133437.4:c.30231G>A (TTN) | NP_597681.4:p.Val10077= | |
| NR_038271.1:n.682+1179C>T (TTN-AS1) | ||
| NR_038272.1:n.3568+187C>T (TTN-AS1) | ||
| XM_011511729.1:c.55947G>A (TTN) | XP_011510031.1:p.Val18649= | |
| XM_011511730.1:c.29841G>A (TTN) | XP_011510032.1:p.Val9947= | |
| XM_011511731.1:c.29700G>A (TTN) | XP_011510033.1:p.Val9900= | |
| XM_017004819.1:c.55743G>A (TTN) | XP_016860308.1:p.Val18581= | |
| XM_017004820.1:c.51141G>A (TTN) | XP_016860309.1:p.Val17047= | |
| XM_017004821.1:c.51138G>A (TTN) | XP_016860310.1:p.Val17046= | |
| XM_017004822.1:c.48180G>A (TTN) | XP_016860311.1:p.Val16060= | |
| XM_017004823.1:c.29796G>A (TTN) | XP_016860312.1:p.Val9932= | |
| XM_024453094.1:c.51291G>A (TTN) | XP_024308862.1:p.Val17097= | |
| XM_024453095.1:c.51288G>A (TTN) | XP_024308863.1:p.Val17096= | |
| XM_024453096.1:c.50721G>A (TTN) | XP_024308864.1:p.Val16907= | |
| XM_024453097.1:c.48063G>A (TTN) | XP_024308865.1:p.Val16021= | |
| XM_024453098.1:c.47982G>A (TTN) | XP_024308866.1:p.Val15994= | |
| XM_024453099.1:c.29745G>A (TTN) | XP_024308867.1:p.Val9915= | |
| XM_024453100.1:c.19599G>A (TTN) | XP_024308868.1:p.Val6533= |