Linked Data
ClinVar Variation Id:
1753679
ClinVar RCV Id:
RCV002361922
dbSNP Id:
rs1474057900
gnomAD v3:
2-178549852-C-T
gnomAD v4:
2-178549852-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549852C>T , CM000664.2:g.178549852C>T | GRCh38 |
| NC_000002.11:g.179414579C>T , CM000664.1:g.179414579C>T | GRCh37 |
| NC_000002.10:g.179122825C>T | NCBI36 |
| NG_011618.3:g.285951G>A , LRG_391:g.285951G>A | |
| NG_051363.1:g.32026C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84166G>A (TTN) | ENSP00000343764.6:p.Val28056Ile | |
| ENST00000342175.11:c.65251G>A (TTN) | ENSP00000340554.6:p.Val21751Ile | |
| ENST00000359218.10:c.65050G>A (TTN) | ENSP00000352154.5:p.Val21684Ile | |
| ENST00000342175.10:c.65251G>A (TTN) | ENSP00000340554.6:p.Val21751Ile | |
| ENST00000342992.10:c.84166G>A (TTN) | ENSP00000343764.6:p.Val28056Ile | |
| ENST00000359218.9:c.65050G>A (TTN) | ENSP00000352154.5:p.Val21684Ile | |
| ENST00000460472.6:c.64675G>A (TTN) | ENSP00000434586.1:p.Val21559Ile | |
| ENST00000589042.5:c.91870G>A (TTN) MANE Select | ENSP00000467141.1:p.Val30624Ile | |
| ENST00000591111.5:c.86947G>A (TTN) | ENSP00000465570.1:p.Val28983Ile | |
| ENST00000615779.4:c.86947G>A (TTN) | ENSP00000483597.1:p.Val28983Ile | |
| NM_001256850.1:c.86947G>A (TTN) | NP_001243779.1:p.Val28983Ile | |
| NM_001267550.2:c.91870G>A (TTN) MANE Select | NP_001254479.2:p.Val30624Ile | |
| NM_003319.4:c.64675G>A (TTN) | NP_003310.4:p.Val21559Ile | |
| NM_133378.4:c.84166G>A (TTN) | NP_596869.4:p.Val28056Ile | |
| NM_133432.3:c.65050G>A (TTN) | NP_597676.3:p.Val21684Ile | |
| NM_133437.4:c.65251G>A (TTN) | NP_597681.4:p.Val21751Ile | |
| NR_038271.1:n.447-21448C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+7491C>T (TTN-AS1) | ||
| XM_011511729.1:c.90967G>A (TTN) | XP_011510031.1:p.Val30323Ile | |
| XM_011511730.1:c.64861G>A (TTN) | XP_011510032.1:p.Val21621Ile | |
| XM_011511731.1:c.64720G>A (TTN) | XP_011510033.1:p.Val21574Ile | |
| XM_017004819.1:c.90763G>A (TTN) | XP_016860308.1:p.Val30255Ile | |
| XM_017004820.1:c.86161G>A (TTN) | XP_016860309.1:p.Val28721Ile | |
| XM_017004821.1:c.86158G>A (TTN) | XP_016860310.1:p.Val28720Ile | |
| XM_017004822.1:c.83200G>A (TTN) | XP_016860311.1:p.Val27734Ile | |
| XM_017004823.1:c.64816G>A (TTN) | XP_016860312.1:p.Val21606Ile | |
| XM_024453094.1:c.86311G>A (TTN) | XP_024308862.1:p.Val28771Ile | |
| XM_024453095.1:c.86308G>A (TTN) | XP_024308863.1:p.Val28770Ile | |
| XM_024453096.1:c.85741G>A (TTN) | XP_024308864.1:p.Val28581Ile | |
| XM_024453097.1:c.83083G>A (TTN) | XP_024308865.1:p.Val27695Ile | |
| XM_024453098.1:c.83002G>A (TTN) | XP_024308866.1:p.Val27668Ile | |
| XM_024453099.1:c.64765G>A (TTN) | XP_024308867.1:p.Val21589Ile | |
| XM_024453100.1:c.54619G>A (TTN) | XP_024308868.1:p.Val18207Ile |