Linked Data
ClinVar Variation Id:
284991
dbSNP Id:
rs369710636
ExAC:
2:179454490 G / A
gnomAD v2:
2-179454490-G-A
gnomAD v3:
2-178589763-G-A
gnomAD v4:
2-178589763-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589763G>A , CM000664.2:g.178589763G>A | GRCh38 |
| NC_000002.11:g.179454490G>A , CM000664.1:g.179454490G>A | GRCh37 |
| NC_000002.10:g.179162736G>A | NCBI36 |
| NG_011618.3:g.246040C>T , LRG_391:g.246040C>T | |
| NG_051363.1:g.71937G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54258C>T (TTN) | ENSP00000343764.6:p.Ile18086= | |
| ENST00000342175.11:c.35343C>T (TTN) | ENSP00000340554.6:p.Ile11781= | |
| ENST00000359218.10:c.35142C>T (TTN) | ENSP00000352154.5:p.Ile11714= | |
| ENST00000342175.10:c.35343C>T (TTN) | ENSP00000340554.6:p.Ile11781= | |
| ENST00000342992.10:c.54258C>T (TTN) | ENSP00000343764.6:p.Ile18086= | |
| ENST00000359218.9:c.35142C>T (TTN) | ENSP00000352154.5:p.Ile11714= | |
| ENST00000460472.6:c.34767C>T (TTN) | ENSP00000434586.1:p.Ile11589= | |
| ENST00000589042.5:c.61962C>T (TTN) MANE Select | ENSP00000467141.1:p.Ile20654= | |
| ENST00000591111.5:c.57039C>T (TTN) | ENSP00000465570.1:p.Ile19013= | |
| ENST00000615779.4:c.57039C>T (TTN) | ENSP00000483597.1:p.Ile19013= | |
| NM_001256850.1:c.57039C>T (TTN) | NP_001243779.1:p.Ile19013= | |
| NM_001267550.2:c.61962C>T (TTN) MANE Select | NP_001254479.2:p.Ile20654= | |
| NM_003319.4:c.34767C>T (TTN) | NP_003310.4:p.Ile11589= | |
| NM_133378.4:c.54258C>T (TTN) | NP_596869.4:p.Ile18086= | |
| NM_133432.3:c.35142C>T (TTN) | NP_597676.3:p.Ile11714= | |
| NM_133437.4:c.35343C>T (TTN) | NP_597681.4:p.Ile11781= | |
| NR_038271.1:n.597-7833G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-1376G>A (TTN-AS1) | ||
| XM_011511729.1:c.61059C>T (TTN) | XP_011510031.1:p.Ile20353= | |
| XM_011511730.1:c.34953C>T (TTN) | XP_011510032.1:p.Ile11651= | |
| XM_011511731.1:c.34812C>T (TTN) | XP_011510033.1:p.Ile11604= | |
| XM_017004819.1:c.60855C>T (TTN) | XP_016860308.1:p.Ile20285= | |
| XM_017004820.1:c.56253C>T (TTN) | XP_016860309.1:p.Ile18751= | |
| XM_017004821.1:c.56250C>T (TTN) | XP_016860310.1:p.Ile18750= | |
| XM_017004822.1:c.53292C>T (TTN) | XP_016860311.1:p.Ile17764= | |
| XM_017004823.1:c.34908C>T (TTN) | XP_016860312.1:p.Ile11636= | |
| XM_024453094.1:c.56403C>T (TTN) | XP_024308862.1:p.Ile18801= | |
| XM_024453095.1:c.56400C>T (TTN) | XP_024308863.1:p.Ile18800= | |
| XM_024453096.1:c.55833C>T (TTN) | XP_024308864.1:p.Ile18611= | |
| XM_024453097.1:c.53175C>T (TTN) | XP_024308865.1:p.Ile17725= | |
| XM_024453098.1:c.53094C>T (TTN) | XP_024308866.1:p.Ile17698= | |
| XM_024453099.1:c.34857C>T (TTN) | XP_024308867.1:p.Ile11619= | |
| XM_024453100.1:c.24711C>T (TTN) | XP_024308868.1:p.Ile8237= |