Linked Data
ClinVar Variation Id:
202398
dbSNP Id:
rs794729279
gnomAD v2:
2-179452411-G-A
gnomAD v4:
2-178587684-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587684G>A , CM000664.2:g.178587684G>A | GRCh38 |
| NC_000002.11:g.179452411G>A , CM000664.1:g.179452411G>A | GRCh37 |
| NC_000002.10:g.179160657G>A | NCBI36 |
| NG_011618.3:g.248119C>T , LRG_391:g.248119C>T | |
| NG_051363.1:g.69858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55921C>T (TTN) | ENSP00000343764.6:p.Arg18641Ter | |
| ENST00000342175.11:c.37006C>T (TTN) | ENSP00000340554.6:p.Arg12336Ter | |
| ENST00000359218.10:c.36805C>T (TTN) | ENSP00000352154.5:p.Arg12269Ter | |
| ENST00000342175.10:c.37006C>T (TTN) | ENSP00000340554.6:p.Arg12336Ter | |
| ENST00000342992.10:c.55921C>T (TTN) | ENSP00000343764.6:p.Arg18641Ter | |
| ENST00000359218.9:c.36805C>T (TTN) | ENSP00000352154.5:p.Arg12269Ter | |
| ENST00000460472.6:c.36430C>T (TTN) | ENSP00000434586.1:p.Arg12144Ter | |
| ENST00000589042.5:c.63625C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21209Ter | |
| ENST00000591111.5:c.58702C>T (TTN) | ENSP00000465570.1:p.Arg19568Ter | |
| ENST00000615779.4:c.58702C>T (TTN) | ENSP00000483597.1:p.Arg19568Ter | |
| NM_001256850.1:c.58702C>T (TTN) | NP_001243779.1:p.Arg19568Ter | |
| NM_001267550.2:c.63625C>T (TTN) MANE Select | NP_001254479.2:p.Arg21209Ter | |
| NM_003319.4:c.36430C>T (TTN) | NP_003310.4:p.Arg12144Ter | |
| NM_133378.4:c.55921C>T (TTN) | NP_596869.4:p.Arg18641Ter | |
| NM_133432.3:c.36805C>T (TTN) | NP_597676.3:p.Arg12269Ter | |
| NM_133437.4:c.37006C>T (TTN) | NP_597681.4:p.Arg12336Ter | |
| NR_038271.1:n.597-9912G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+2691G>A (TTN-AS1) | ||
| XM_011511729.1:c.62722C>T (TTN) | XP_011510031.1:p.Arg20908Ter | |
| XM_011511730.1:c.36616C>T (TTN) | XP_011510032.1:p.Arg12206Ter | |
| XM_011511731.1:c.36475C>T (TTN) | XP_011510033.1:p.Arg12159Ter | |
| XM_017004819.1:c.62518C>T (TTN) | XP_016860308.1:p.Arg20840Ter | |
| XM_017004820.1:c.57916C>T (TTN) | XP_016860309.1:p.Arg19306Ter | |
| XM_017004821.1:c.57913C>T (TTN) | XP_016860310.1:p.Arg19305Ter | |
| XM_017004822.1:c.54955C>T (TTN) | XP_016860311.1:p.Arg18319Ter | |
| XM_017004823.1:c.36571C>T (TTN) | XP_016860312.1:p.Arg12191Ter | |
| XM_024453094.1:c.58066C>T (TTN) | XP_024308862.1:p.Arg19356Ter | |
| XM_024453095.1:c.58063C>T (TTN) | XP_024308863.1:p.Arg19355Ter | |
| XM_024453096.1:c.57496C>T (TTN) | XP_024308864.1:p.Arg19166Ter | |
| XM_024453097.1:c.54838C>T (TTN) | XP_024308865.1:p.Arg18280Ter | |
| XM_024453098.1:c.54757C>T (TTN) | XP_024308866.1:p.Arg18253Ter | |
| XM_024453099.1:c.36520C>T (TTN) | XP_024308867.1:p.Arg12174Ter | |
| XM_024453100.1:c.26374C>T (TTN) | XP_024308868.1:p.Arg8792Ter |