Linked Data
ClinVar Variation Id:
282520
dbSNP Id:
rs370070176
ExAC:
2:179435191 G / A
gnomAD v2:
2-179435191-G-A
gnomAD v3:
2-178570464-G-A
gnomAD v4:
2-178570464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570464G>A , CM000664.2:g.178570464G>A | GRCh38 |
| NC_000002.11:g.179435191G>A , CM000664.1:g.179435191G>A | GRCh37 |
| NC_000002.10:g.179143437G>A | NCBI36 |
| NG_011618.3:g.265339C>T , LRG_391:g.265339C>T | |
| NG_051363.1:g.52638G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67964C>T (TTN) | ENSP00000343764.6:p.Thr22655Ile | |
| ENST00000342175.11:c.49049C>T (TTN) | ENSP00000340554.6:p.Thr16350Ile | |
| ENST00000359218.10:c.48848C>T (TTN) | ENSP00000352154.5:p.Thr16283Ile | |
| ENST00000342175.10:c.49049C>T (TTN) | ENSP00000340554.6:p.Thr16350Ile | |
| ENST00000342992.10:c.67964C>T (TTN) | ENSP00000343764.6:p.Thr22655Ile | |
| ENST00000359218.9:c.48848C>T (TTN) | ENSP00000352154.5:p.Thr16283Ile | |
| ENST00000460472.6:c.48473C>T (TTN) | ENSP00000434586.1:p.Thr16158Ile | |
| ENST00000589042.5:c.75668C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr25223Ile | |
| ENST00000591111.5:c.70745C>T (TTN) | ENSP00000465570.1:p.Thr23582Ile | |
| ENST00000615779.4:c.70745C>T (TTN) | ENSP00000483597.1:p.Thr23582Ile | |
| NM_001256850.1:c.70745C>T (TTN) | NP_001243779.1:p.Thr23582Ile | |
| NM_001267550.2:c.75668C>T (TTN) MANE Select | NP_001254479.2:p.Thr25223Ile | |
| NM_003319.4:c.48473C>T (TTN) | NP_003310.4:p.Thr16158Ile | |
| NM_133378.4:c.67964C>T (TTN) | NP_596869.4:p.Thr22655Ile | |
| NM_133432.3:c.48848C>T (TTN) | NP_597676.3:p.Thr16283Ile | |
| NM_133437.4:c.49049C>T (TTN) | NP_597681.4:p.Thr16350Ile | |
| NR_038271.1:n.447-836G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12108G>A (TTN-AS1) | ||
| XM_011511729.1:c.74765C>T (TTN) | XP_011510031.1:p.Thr24922Ile | |
| XM_011511730.1:c.48659C>T (TTN) | XP_011510032.1:p.Thr16220Ile | |
| XM_011511731.1:c.48518C>T (TTN) | XP_011510033.1:p.Thr16173Ile | |
| XM_017004819.1:c.74561C>T (TTN) | XP_016860308.1:p.Thr24854Ile | |
| XM_017004820.1:c.69959C>T (TTN) | XP_016860309.1:p.Thr23320Ile | |
| XM_017004821.1:c.69956C>T (TTN) | XP_016860310.1:p.Thr23319Ile | |
| XM_017004822.1:c.66998C>T (TTN) | XP_016860311.1:p.Thr22333Ile | |
| XM_017004823.1:c.48614C>T (TTN) | XP_016860312.1:p.Thr16205Ile | |
| XM_024453094.1:c.70109C>T (TTN) | XP_024308862.1:p.Thr23370Ile | |
| XM_024453095.1:c.70106C>T (TTN) | XP_024308863.1:p.Thr23369Ile | |
| XM_024453096.1:c.69539C>T (TTN) | XP_024308864.1:p.Thr23180Ile | |
| XM_024453097.1:c.66881C>T (TTN) | XP_024308865.1:p.Thr22294Ile | |
| XM_024453098.1:c.66800C>T (TTN) | XP_024308866.1:p.Thr22267Ile | |
| XM_024453099.1:c.48563C>T (TTN) | XP_024308867.1:p.Thr16188Ile | |
| XM_024453100.1:c.38417C>T (TTN) | XP_024308868.1:p.Thr12806Ile |