Linked Data
ClinVar Variation Id:
202724
dbSNP Id:
rs372778818
ExAC:
2:179466438 G / A
gnomAD v2:
2-179466438-G-A
gnomAD v3:
2-178601711-G-A
gnomAD v4:
2-178601711-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601711G>A , CM000664.2:g.178601711G>A | GRCh38 |
| NC_000002.11:g.179466438G>A , CM000664.1:g.179466438G>A | GRCh37 |
| NC_000002.10:g.179174683G>A | NCBI36 |
| NG_011618.3:g.234092C>T , LRG_391:g.234092C>T | |
| NG_051363.1:g.83885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47675C>T (TTN) | ENSP00000343764.6:p.Thr15892Ile | |
| ENST00000342175.11:c.28760C>T (TTN) | ENSP00000340554.6:p.Thr9587Ile | |
| ENST00000359218.10:c.28559C>T (TTN) | ENSP00000352154.5:p.Thr9520Ile | |
| ENST00000342175.10:c.28760C>T (TTN) | ENSP00000340554.6:p.Thr9587Ile | |
| ENST00000342992.10:c.47675C>T (TTN) | ENSP00000343764.6:p.Thr15892Ile | |
| ENST00000359218.9:c.28559C>T (TTN) | ENSP00000352154.5:p.Thr9520Ile | |
| ENST00000460472.6:c.28184C>T (TTN) | ENSP00000434586.1:p.Thr9395Ile | |
| ENST00000589042.5:c.55379C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr18460Ile | |
| ENST00000591111.5:c.50456C>T (TTN) | ENSP00000465570.1:p.Thr16819Ile | |
| ENST00000615779.4:c.50456C>T (TTN) | ENSP00000483597.1:p.Thr16819Ile | |
| NM_001256850.1:c.50456C>T (TTN) | NP_001243779.1:p.Thr16819Ile | |
| NM_001267550.2:c.55379C>T (TTN) MANE Select | NP_001254479.2:p.Thr18460Ile | |
| NM_003319.4:c.28184C>T (TTN) | NP_003310.4:p.Thr9395Ile | |
| NM_133378.4:c.47675C>T (TTN) | NP_596869.4:p.Thr15892Ile | |
| NM_133432.3:c.28559C>T (TTN) | NP_597676.3:p.Thr9520Ile | |
| NM_133437.4:c.28760C>T (TTN) | NP_597681.4:p.Thr9587Ile | |
| NR_038271.1:n.682+4030G>A (TTN-AS1) | ||
| NR_038272.1:n.3917+1044G>A (TTN-AS1) | ||
| XM_011511729.1:c.54476C>T (TTN) | XP_011510031.1:p.Thr18159Ile | |
| XM_011511730.1:c.28370C>T (TTN) | XP_011510032.1:p.Thr9457Ile | |
| XM_011511731.1:c.28229C>T (TTN) | XP_011510033.1:p.Thr9410Ile | |
| XM_017004819.1:c.54272C>T (TTN) | XP_016860308.1:p.Thr18091Ile | |
| XM_017004820.1:c.49670C>T (TTN) | XP_016860309.1:p.Thr16557Ile | |
| XM_017004821.1:c.49667C>T (TTN) | XP_016860310.1:p.Thr16556Ile | |
| XM_017004822.1:c.46709C>T (TTN) | XP_016860311.1:p.Thr15570Ile | |
| XM_017004823.1:c.28325C>T (TTN) | XP_016860312.1:p.Thr9442Ile | |
| XM_024453094.1:c.49820C>T (TTN) | XP_024308862.1:p.Thr16607Ile | |
| XM_024453095.1:c.49817C>T (TTN) | XP_024308863.1:p.Thr16606Ile | |
| XM_024453096.1:c.49250C>T (TTN) | XP_024308864.1:p.Thr16417Ile | |
| XM_024453097.1:c.46592C>T (TTN) | XP_024308865.1:p.Thr15531Ile | |
| XM_024453098.1:c.46511C>T (TTN) | XP_024308866.1:p.Thr15504Ile | |
| XM_024453099.1:c.28274C>T (TTN) | XP_024308867.1:p.Thr9425Ile | |
| XM_024453100.1:c.18128C>T (TTN) | XP_024308868.1:p.Thr6043Ile |