Linked Data
ClinVar Variation Id:
222861
dbSNP Id:
rs869025545
gnomAD v4:
2-178566448-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566448G>A , CM000664.2:g.178566448G>A | GRCh38 |
| NC_000002.11:g.179431175G>A , CM000664.1:g.179431175G>A | GRCh37 |
| NC_000002.10:g.179139421G>A | NCBI36 |
| NG_011618.3:g.269355C>T , LRG_391:g.269355C>T | |
| NG_051363.1:g.48622G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71980C>T (TTN) | ENSP00000343764.6:p.Arg23994Ter | |
| ENST00000342175.11:c.53065C>T (TTN) | ENSP00000340554.6:p.Arg17689Ter | |
| ENST00000359218.10:c.52864C>T (TTN) | ENSP00000352154.5:p.Arg17622Ter | |
| ENST00000342175.10:c.53065C>T (TTN) | ENSP00000340554.6:p.Arg17689Ter | |
| ENST00000342992.10:c.71980C>T (TTN) | ENSP00000343764.6:p.Arg23994Ter | |
| ENST00000359218.9:c.52864C>T (TTN) | ENSP00000352154.5:p.Arg17622Ter | |
| ENST00000460472.6:c.52489C>T (TTN) | ENSP00000434586.1:p.Arg17497Ter | |
| ENST00000589042.5:c.79684C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg26562Ter | |
| ENST00000591111.5:c.74761C>T (TTN) | ENSP00000465570.1:p.Arg24921Ter | |
| ENST00000615779.4:c.74761C>T (TTN) | ENSP00000483597.1:p.Arg24921Ter | |
| NM_001256850.1:c.74761C>T (TTN) | NP_001243779.1:p.Arg24921Ter | |
| NM_001267550.2:c.79684C>T (TTN) MANE Select | NP_001254479.2:p.Arg26562Ter | |
| NM_003319.4:c.52489C>T (TTN) | NP_003310.4:p.Arg17497Ter | |
| NM_133378.4:c.71980C>T (TTN) | NP_596869.4:p.Arg23994Ter | |
| NM_133432.3:c.52864C>T (TTN) | NP_597676.3:p.Arg17622Ter | |
| NM_133437.4:c.53065C>T (TTN) | NP_597681.4:p.Arg17689Ter | |
| NR_038271.1:n.447-4852G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-16124G>A (TTN-AS1) | ||
| XM_011511729.1:c.78781C>T (TTN) | XP_011510031.1:p.Arg26261Ter | |
| XM_011511730.1:c.52675C>T (TTN) | XP_011510032.1:p.Arg17559Ter | |
| XM_011511731.1:c.52534C>T (TTN) | XP_011510033.1:p.Arg17512Ter | |
| XM_017004819.1:c.78577C>T (TTN) | XP_016860308.1:p.Arg26193Ter | |
| XM_017004820.1:c.73975C>T (TTN) | XP_016860309.1:p.Arg24659Ter | |
| XM_017004821.1:c.73972C>T (TTN) | XP_016860310.1:p.Arg24658Ter | |
| XM_017004822.1:c.71014C>T (TTN) | XP_016860311.1:p.Arg23672Ter | |
| XM_017004823.1:c.52630C>T (TTN) | XP_016860312.1:p.Arg17544Ter | |
| XM_024453094.1:c.74125C>T (TTN) | XP_024308862.1:p.Arg24709Ter | |
| XM_024453095.1:c.74122C>T (TTN) | XP_024308863.1:p.Arg24708Ter | |
| XM_024453096.1:c.73555C>T (TTN) | XP_024308864.1:p.Arg24519Ter | |
| XM_024453097.1:c.70897C>T (TTN) | XP_024308865.1:p.Arg23633Ter | |
| XM_024453098.1:c.70816C>T (TTN) | XP_024308866.1:p.Arg23606Ter | |
| XM_024453099.1:c.52579C>T (TTN) | XP_024308867.1:p.Arg17527Ter | |
| XM_024453100.1:c.42433C>T (TTN) | XP_024308868.1:p.Arg14145Ter |