Linked Data
ClinVar Variation Id:
179759
dbSNP Id:
rs557312035
gnomAD v4:
2-178564811-G-C
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564811G>C , CM000664.2:g.178564811G>C | GRCh38 |
| NC_000002.11:g.179429538G>C , CM000664.1:g.179429538G>C | GRCh37 |
| NC_000002.10:g.179137784G>C | NCBI36 |
| NG_011618.3:g.270992C>G , LRG_391:g.270992C>G | |
| NG_051363.1:g.46985G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73617C>G (TTN) | ENSP00000343764.6:p.Tyr24539Ter | |
| ENST00000342175.11:c.54702C>G (TTN) | ENSP00000340554.6:p.Tyr18234Ter | |
| ENST00000359218.10:c.54501C>G (TTN) | ENSP00000352154.5:p.Tyr18167Ter | |
| ENST00000342175.10:c.54702C>G (TTN) | ENSP00000340554.6:p.Tyr18234Ter | |
| ENST00000342992.10:c.73617C>G (TTN) | ENSP00000343764.6:p.Tyr24539Ter | |
| ENST00000359218.9:c.54501C>G (TTN) | ENSP00000352154.5:p.Tyr18167Ter | |
| ENST00000460472.6:c.54126C>G (TTN) | ENSP00000434586.1:p.Tyr18042Ter | |
| ENST00000589042.5:c.81321C>G (TTN) MANE Select | ENSP00000467141.1:p.Tyr27107Ter | |
| ENST00000591111.5:c.76398C>G (TTN) | ENSP00000465570.1:p.Tyr25466Ter | |
| ENST00000615779.4:c.76398C>G (TTN) | ENSP00000483597.1:p.Tyr25466Ter | |
| NM_001256850.1:c.76398C>G (TTN) | NP_001243779.1:p.Tyr25466Ter | |
| NM_001267550.2:c.81321C>G (TTN) MANE Select | NP_001254479.2:p.Tyr27107Ter | |
| NM_003319.4:c.54126C>G (TTN) | NP_003310.4:p.Tyr18042Ter | |
| NM_133378.4:c.73617C>G (TTN) | NP_596869.4:p.Tyr24539Ter | |
| NM_133432.3:c.54501C>G (TTN) | NP_597676.3:p.Tyr18167Ter | |
| NM_133437.4:c.54702C>G (TTN) | NP_597681.4:p.Tyr18234Ter | |
| NR_038271.1:n.447-6489G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-17761G>C (TTN-AS1) | ||
| XM_011511729.1:c.80418C>G (TTN) | XP_011510031.1:p.Tyr26806Ter | |
| XM_011511730.1:c.54312C>G (TTN) | XP_011510032.1:p.Tyr18104Ter | |
| XM_011511731.1:c.54171C>G (TTN) | XP_011510033.1:p.Tyr18057Ter | |
| XM_017004819.1:c.80214C>G (TTN) | XP_016860308.1:p.Tyr26738Ter | |
| XM_017004820.1:c.75612C>G (TTN) | XP_016860309.1:p.Tyr25204Ter | |
| XM_017004821.1:c.75609C>G (TTN) | XP_016860310.1:p.Tyr25203Ter | |
| XM_017004822.1:c.72651C>G (TTN) | XP_016860311.1:p.Tyr24217Ter | |
| XM_017004823.1:c.54267C>G (TTN) | XP_016860312.1:p.Tyr18089Ter | |
| XM_024453094.1:c.75762C>G (TTN) | XP_024308862.1:p.Tyr25254Ter | |
| XM_024453095.1:c.75759C>G (TTN) | XP_024308863.1:p.Tyr25253Ter | |
| XM_024453096.1:c.75192C>G (TTN) | XP_024308864.1:p.Tyr25064Ter | |
| XM_024453097.1:c.72534C>G (TTN) | XP_024308865.1:p.Tyr24178Ter | |
| XM_024453098.1:c.72453C>G (TTN) | XP_024308866.1:p.Tyr24151Ter | |
| XM_024453099.1:c.54216C>G (TTN) | XP_024308867.1:p.Tyr18072Ter | |
| XM_024453100.1:c.44070C>G (TTN) | XP_024308868.1:p.Tyr14690Ter |