Linked Data
ClinVar Variation Id:
47279
dbSNP Id:
rs190421400
ExAC:
2:179440955 C / T
gnomAD v2:
2-179440955-C-T
gnomAD v3:
2-178576228-C-T
gnomAD v4:
2-178576228-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576228C>T , CM000664.2:g.178576228C>T | GRCh38 |
| NC_000002.11:g.179440955C>T , CM000664.1:g.179440955C>T | GRCh37 |
| NC_000002.10:g.179149201C>T | NCBI36 |
| NG_011618.3:g.259575G>A , LRG_391:g.259575G>A | |
| NG_051363.1:g.58402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62200G>A (TTN) | ENSP00000343764.6:p.Val20734Ile | |
| ENST00000342175.11:c.43285G>A (TTN) | ENSP00000340554.6:p.Val14429Ile | |
| ENST00000359218.10:c.43084G>A (TTN) | ENSP00000352154.5:p.Val14362Ile | |
| ENST00000342175.10:c.43285G>A (TTN) | ENSP00000340554.6:p.Val14429Ile | |
| ENST00000342992.10:c.62200G>A (TTN) | ENSP00000343764.6:p.Val20734Ile | |
| ENST00000359218.9:c.43084G>A (TTN) | ENSP00000352154.5:p.Val14362Ile | |
| ENST00000460472.6:c.42709G>A (TTN) | ENSP00000434586.1:p.Val14237Ile | |
| ENST00000589042.5:c.69904G>A (TTN) MANE Select | ENSP00000467141.1:p.Val23302Ile | |
| ENST00000591111.5:c.64981G>A (TTN) | ENSP00000465570.1:p.Val21661Ile | |
| ENST00000615779.4:c.64981G>A (TTN) | ENSP00000483597.1:p.Val21661Ile | |
| NM_001256850.1:c.64981G>A (TTN) | NP_001243779.1:p.Val21661Ile | |
| NM_001267550.2:c.69904G>A (TTN) MANE Select | NP_001254479.2:p.Val23302Ile | |
| NM_003319.4:c.42709G>A (TTN) | NP_003310.4:p.Val14237Ile | |
| NM_133378.4:c.62200G>A (TTN) | NP_596869.4:p.Val20734Ile | |
| NM_133432.3:c.43084G>A (TTN) | NP_597676.3:p.Val14362Ile | |
| NM_133437.4:c.43285G>A (TTN) | NP_597681.4:p.Val14429Ile | |
| NR_038271.1:n.596+4779C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-6344C>T (TTN-AS1) | ||
| XM_011511729.1:c.69001G>A (TTN) | XP_011510031.1:p.Val23001Ile | |
| XM_011511730.1:c.42895G>A (TTN) | XP_011510032.1:p.Val14299Ile | |
| XM_011511731.1:c.42754G>A (TTN) | XP_011510033.1:p.Val14252Ile | |
| XM_017004819.1:c.68797G>A (TTN) | XP_016860308.1:p.Val22933Ile | |
| XM_017004820.1:c.64195G>A (TTN) | XP_016860309.1:p.Val21399Ile | |
| XM_017004821.1:c.64192G>A (TTN) | XP_016860310.1:p.Val21398Ile | |
| XM_017004822.1:c.61234G>A (TTN) | XP_016860311.1:p.Val20412Ile | |
| XM_017004823.1:c.42850G>A (TTN) | XP_016860312.1:p.Val14284Ile | |
| XM_024453094.1:c.64345G>A (TTN) | XP_024308862.1:p.Val21449Ile | |
| XM_024453095.1:c.64342G>A (TTN) | XP_024308863.1:p.Val21448Ile | |
| XM_024453096.1:c.63775G>A (TTN) | XP_024308864.1:p.Val21259Ile | |
| XM_024453097.1:c.61117G>A (TTN) | XP_024308865.1:p.Val20373Ile | |
| XM_024453098.1:c.61036G>A (TTN) | XP_024308866.1:p.Val20346Ile | |
| XM_024453099.1:c.42799G>A (TTN) | XP_024308867.1:p.Val14267Ile | |
| XM_024453100.1:c.32653G>A (TTN) | XP_024308868.1:p.Val10885Ile |