Linked Data
ClinVar Variation Id:
535086
dbSNP Id:
rs540840413
ExAC:
2:179440902 G / C
gnomAD v2:
2-179440902-G-C
gnomAD v3:
2-178576175-G-C
gnomAD v4:
2-178576175-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576175G>C , CM000664.2:g.178576175G>C | GRCh38 |
| NC_000002.11:g.179440902G>C , CM000664.1:g.179440902G>C | GRCh37 |
| NC_000002.10:g.179149148G>C | NCBI36 |
| NG_011618.3:g.259628C>G , LRG_391:g.259628C>G | |
| NG_051363.1:g.58349G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62253C>G (TTN) | ENSP00000343764.6:p.Ile20751Met | |
| ENST00000342175.11:c.43338C>G (TTN) | ENSP00000340554.6:p.Ile14446Met | |
| ENST00000359218.10:c.43137C>G (TTN) | ENSP00000352154.5:p.Ile14379Met | |
| ENST00000342175.10:c.43338C>G (TTN) | ENSP00000340554.6:p.Ile14446Met | |
| ENST00000342992.10:c.62253C>G (TTN) | ENSP00000343764.6:p.Ile20751Met | |
| ENST00000359218.9:c.43137C>G (TTN) | ENSP00000352154.5:p.Ile14379Met | |
| ENST00000460472.6:c.42762C>G (TTN) | ENSP00000434586.1:p.Ile14254Met | |
| ENST00000589042.5:c.69957C>G (TTN) MANE Select | ENSP00000467141.1:p.Ile23319Met | |
| ENST00000591111.5:c.65034C>G (TTN) | ENSP00000465570.1:p.Ile21678Met | |
| ENST00000615779.4:c.65034C>G (TTN) | ENSP00000483597.1:p.Ile21678Met | |
| NM_001256850.1:c.65034C>G (TTN) | NP_001243779.1:p.Ile21678Met | |
| NM_001267550.2:c.69957C>G (TTN) MANE Select | NP_001254479.2:p.Ile23319Met | |
| NM_003319.4:c.42762C>G (TTN) | NP_003310.4:p.Ile14254Met | |
| NM_133378.4:c.62253C>G (TTN) | NP_596869.4:p.Ile20751Met | |
| NM_133432.3:c.43137C>G (TTN) | NP_597676.3:p.Ile14379Met | |
| NM_133437.4:c.43338C>G (TTN) | NP_597681.4:p.Ile14446Met | |
| NR_038271.1:n.596+4726G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-6397G>C (TTN-AS1) | ||
| XM_011511729.1:c.69054C>G (TTN) | XP_011510031.1:p.Ile23018Met | |
| XM_011511730.1:c.42948C>G (TTN) | XP_011510032.1:p.Ile14316Met | |
| XM_011511731.1:c.42807C>G (TTN) | XP_011510033.1:p.Ile14269Met | |
| XM_017004819.1:c.68850C>G (TTN) | XP_016860308.1:p.Ile22950Met | |
| XM_017004820.1:c.64248C>G (TTN) | XP_016860309.1:p.Ile21416Met | |
| XM_017004821.1:c.64245C>G (TTN) | XP_016860310.1:p.Ile21415Met | |
| XM_017004822.1:c.61287C>G (TTN) | XP_016860311.1:p.Ile20429Met | |
| XM_017004823.1:c.42903C>G (TTN) | XP_016860312.1:p.Ile14301Met | |
| XM_024453094.1:c.64398C>G (TTN) | XP_024308862.1:p.Ile21466Met | |
| XM_024453095.1:c.64395C>G (TTN) | XP_024308863.1:p.Ile21465Met | |
| XM_024453096.1:c.63828C>G (TTN) | XP_024308864.1:p.Ile21276Met | |
| XM_024453097.1:c.61170C>G (TTN) | XP_024308865.1:p.Ile20390Met | |
| XM_024453098.1:c.61089C>G (TTN) | XP_024308866.1:p.Ile20363Met | |
| XM_024453099.1:c.42852C>G (TTN) | XP_024308867.1:p.Ile14284Met | |
| XM_024453100.1:c.32706C>G (TTN) | XP_024308868.1:p.Ile10902Met |