Linked Data
ClinVar Variation Id:
519027
dbSNP Id:
rs1250461669
gnomAD v2:
2-179457272-C-T
gnomAD v3:
2-178592545-C-T
gnomAD v4:
2-178592545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592545C>T , CM000664.2:g.178592545C>T | GRCh38 |
| NC_000002.11:g.179457272C>T , CM000664.1:g.179457272C>T | GRCh37 |
| NC_000002.10:g.179165518C>T | NCBI36 |
| NG_011618.3:g.243258G>A , LRG_391:g.243258G>A | |
| NG_051363.1:g.74719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51756G>A (TTN) | ENSP00000343764.6:p.Trp17252Ter | |
| ENST00000342175.11:c.32841G>A (TTN) | ENSP00000340554.6:p.Trp10947Ter | |
| ENST00000359218.10:c.32640G>A (TTN) | ENSP00000352154.5:p.Trp10880Ter | |
| ENST00000342175.10:c.32841G>A (TTN) | ENSP00000340554.6:p.Trp10947Ter | |
| ENST00000342992.10:c.51756G>A (TTN) | ENSP00000343764.6:p.Trp17252Ter | |
| ENST00000359218.9:c.32640G>A (TTN) | ENSP00000352154.5:p.Trp10880Ter | |
| ENST00000460472.6:c.32265G>A (TTN) | ENSP00000434586.1:p.Trp10755Ter | |
| ENST00000589042.5:c.59460G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp19820Ter | |
| ENST00000591111.5:c.54537G>A (TTN) | ENSP00000465570.1:p.Trp18179Ter | |
| ENST00000615779.4:c.54537G>A (TTN) | ENSP00000483597.1:p.Trp18179Ter | |
| NM_001256850.1:c.54537G>A (TTN) | NP_001243779.1:p.Trp18179Ter | |
| NM_001267550.2:c.59460G>A (TTN) MANE Select | NP_001254479.2:p.Trp19820Ter | |
| NM_003319.4:c.32265G>A (TTN) | NP_003310.4:p.Trp10755Ter | |
| NM_133378.4:c.51756G>A (TTN) | NP_596869.4:p.Trp17252Ter | |
| NM_133432.3:c.32640G>A (TTN) | NP_597676.3:p.Trp10880Ter | |
| NM_133437.4:c.32841G>A (TTN) | NP_597681.4:p.Trp10947Ter | |
| NR_038271.1:n.597-5051C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+1231C>T (TTN-AS1) | ||
| XM_011511729.1:c.58557G>A (TTN) | XP_011510031.1:p.Trp19519Ter | |
| XM_011511730.1:c.32451G>A (TTN) | XP_011510032.1:p.Trp10817Ter | |
| XM_011511731.1:c.32310G>A (TTN) | XP_011510033.1:p.Trp10770Ter | |
| XM_017004819.1:c.58353G>A (TTN) | XP_016860308.1:p.Trp19451Ter | |
| XM_017004820.1:c.53751G>A (TTN) | XP_016860309.1:p.Trp17917Ter | |
| XM_017004821.1:c.53748G>A (TTN) | XP_016860310.1:p.Trp17916Ter | |
| XM_017004822.1:c.50790G>A (TTN) | XP_016860311.1:p.Trp16930Ter | |
| XM_017004823.1:c.32406G>A (TTN) | XP_016860312.1:p.Trp10802Ter | |
| XM_024453094.1:c.53901G>A (TTN) | XP_024308862.1:p.Trp17967Ter | |
| XM_024453095.1:c.53898G>A (TTN) | XP_024308863.1:p.Trp17966Ter | |
| XM_024453096.1:c.53331G>A (TTN) | XP_024308864.1:p.Trp17777Ter | |
| XM_024453097.1:c.50673G>A (TTN) | XP_024308865.1:p.Trp16891Ter | |
| XM_024453098.1:c.50592G>A (TTN) | XP_024308866.1:p.Trp16864Ter | |
| XM_024453099.1:c.32355G>A (TTN) | XP_024308867.1:p.Trp10785Ter | |
| XM_024453100.1:c.22209G>A (TTN) | XP_024308868.1:p.Trp7403Ter |