Linked Data
ClinVar Variation Id:
202518
dbSNP Id:
rs368452607
gnomAD v2:
2-179453427-G-A
gnomAD v4:
2-178588700-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588700G>A , CM000664.2:g.178588700G>A | GRCh38 |
| NC_000002.11:g.179453427G>A , CM000664.1:g.179453427G>A | GRCh37 |
| NC_000002.10:g.179161673G>A | NCBI36 |
| NG_011618.3:g.247103C>T , LRG_391:g.247103C>T | |
| NG_051363.1:g.70874G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55321C>T (TTN) | ENSP00000343764.6:p.Arg18441Ter | |
| ENST00000342175.11:c.36406C>T (TTN) | ENSP00000340554.6:p.Arg12136Ter | |
| ENST00000359218.10:c.36205C>T (TTN) | ENSP00000352154.5:p.Arg12069Ter | |
| ENST00000342175.10:c.36406C>T (TTN) | ENSP00000340554.6:p.Arg12136Ter | |
| ENST00000342992.10:c.55321C>T (TTN) | ENSP00000343764.6:p.Arg18441Ter | |
| ENST00000359218.9:c.36205C>T (TTN) | ENSP00000352154.5:p.Arg12069Ter | |
| ENST00000460472.6:c.35830C>T (TTN) | ENSP00000434586.1:p.Arg11944Ter | |
| ENST00000589042.5:c.63025C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21009Ter | |
| ENST00000591111.5:c.58102C>T (TTN) | ENSP00000465570.1:p.Arg19368Ter | |
| ENST00000615779.4:c.58102C>T (TTN) | ENSP00000483597.1:p.Arg19368Ter | |
| NM_001256850.1:c.58102C>T (TTN) | NP_001243779.1:p.Arg19368Ter | |
| NM_001267550.2:c.63025C>T (TTN) MANE Select | NP_001254479.2:p.Arg21009Ter | |
| NM_003319.4:c.35830C>T (TTN) | NP_003310.4:p.Arg11944Ter | |
| NM_133378.4:c.55321C>T (TTN) | NP_596869.4:p.Arg18441Ter | |
| NM_133432.3:c.36205C>T (TTN) | NP_597676.3:p.Arg12069Ter | |
| NM_133437.4:c.36406C>T (TTN) | NP_597681.4:p.Arg12136Ter | |
| NR_038271.1:n.597-8896G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-2439G>A (TTN-AS1) | ||
| XM_011511729.1:c.62122C>T (TTN) | XP_011510031.1:p.Arg20708Ter | |
| XM_011511730.1:c.36016C>T (TTN) | XP_011510032.1:p.Arg12006Ter | |
| XM_011511731.1:c.35875C>T (TTN) | XP_011510033.1:p.Arg11959Ter | |
| XM_017004819.1:c.61918C>T (TTN) | XP_016860308.1:p.Arg20640Ter | |
| XM_017004820.1:c.57316C>T (TTN) | XP_016860309.1:p.Arg19106Ter | |
| XM_017004821.1:c.57313C>T (TTN) | XP_016860310.1:p.Arg19105Ter | |
| XM_017004822.1:c.54355C>T (TTN) | XP_016860311.1:p.Arg18119Ter | |
| XM_017004823.1:c.35971C>T (TTN) | XP_016860312.1:p.Arg11991Ter | |
| XM_024453094.1:c.57466C>T (TTN) | XP_024308862.1:p.Arg19156Ter | |
| XM_024453095.1:c.57463C>T (TTN) | XP_024308863.1:p.Arg19155Ter | |
| XM_024453096.1:c.56896C>T (TTN) | XP_024308864.1:p.Arg18966Ter | |
| XM_024453097.1:c.54238C>T (TTN) | XP_024308865.1:p.Arg18080Ter | |
| XM_024453098.1:c.54157C>T (TTN) | XP_024308866.1:p.Arg18053Ter | |
| XM_024453099.1:c.35920C>T (TTN) | XP_024308867.1:p.Arg11974Ter | |
| XM_024453100.1:c.25774C>T (TTN) | XP_024308868.1:p.Arg8592Ter |