Linked Data
ClinVar Variation Id:
379555
dbSNP Id:
rs756552975
gnomAD v2:
2-179433994-C-T
gnomAD v4:
2-178569267-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569267C>T , CM000664.2:g.178569267C>T | GRCh38 |
| NC_000002.11:g.179433994C>T , CM000664.1:g.179433994C>T | GRCh37 |
| NC_000002.10:g.179142240C>T | NCBI36 |
| NG_011618.3:g.266536G>A , LRG_391:g.266536G>A | |
| NG_051363.1:g.51441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69161G>A (TTN) | ENSP00000343764.6:p.Trp23054Ter | |
| ENST00000342175.11:c.50246G>A (TTN) | ENSP00000340554.6:p.Trp16749Ter | |
| ENST00000359218.10:c.50045G>A (TTN) | ENSP00000352154.5:p.Trp16682Ter | |
| ENST00000342175.10:c.50246G>A (TTN) | ENSP00000340554.6:p.Trp16749Ter | |
| ENST00000342992.10:c.69161G>A (TTN) | ENSP00000343764.6:p.Trp23054Ter | |
| ENST00000359218.9:c.50045G>A (TTN) | ENSP00000352154.5:p.Trp16682Ter | |
| ENST00000460472.6:c.49670G>A (TTN) | ENSP00000434586.1:p.Trp16557Ter | |
| ENST00000589042.5:c.76865G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp25622Ter | |
| ENST00000591111.5:c.71942G>A (TTN) | ENSP00000465570.1:p.Trp23981Ter | |
| ENST00000615779.4:c.71942G>A (TTN) | ENSP00000483597.1:p.Trp23981Ter | |
| NM_001256850.1:c.71942G>A (TTN) | NP_001243779.1:p.Trp23981Ter | |
| NM_001267550.2:c.76865G>A (TTN) MANE Select | NP_001254479.2:p.Trp25622Ter | |
| NM_003319.4:c.49670G>A (TTN) | NP_003310.4:p.Trp16557Ter | |
| NM_133378.4:c.69161G>A (TTN) | NP_596869.4:p.Trp23054Ter | |
| NM_133432.3:c.50045G>A (TTN) | NP_597676.3:p.Trp16682Ter | |
| NM_133437.4:c.50246G>A (TTN) | NP_597681.4:p.Trp16749Ter | |
| NR_038271.1:n.447-2033C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13305C>T (TTN-AS1) | ||
| XM_011511729.1:c.75962G>A (TTN) | XP_011510031.1:p.Trp25321Ter | |
| XM_011511730.1:c.49856G>A (TTN) | XP_011510032.1:p.Trp16619Ter | |
| XM_011511731.1:c.49715G>A (TTN) | XP_011510033.1:p.Trp16572Ter | |
| XM_017004819.1:c.75758G>A (TTN) | XP_016860308.1:p.Trp25253Ter | |
| XM_017004820.1:c.71156G>A (TTN) | XP_016860309.1:p.Trp23719Ter | |
| XM_017004821.1:c.71153G>A (TTN) | XP_016860310.1:p.Trp23718Ter | |
| XM_017004822.1:c.68195G>A (TTN) | XP_016860311.1:p.Trp22732Ter | |
| XM_017004823.1:c.49811G>A (TTN) | XP_016860312.1:p.Trp16604Ter | |
| XM_024453094.1:c.71306G>A (TTN) | XP_024308862.1:p.Trp23769Ter | |
| XM_024453095.1:c.71303G>A (TTN) | XP_024308863.1:p.Trp23768Ter | |
| XM_024453096.1:c.70736G>A (TTN) | XP_024308864.1:p.Trp23579Ter | |
| XM_024453097.1:c.68078G>A (TTN) | XP_024308865.1:p.Trp22693Ter | |
| XM_024453098.1:c.67997G>A (TTN) | XP_024308866.1:p.Trp22666Ter | |
| XM_024453099.1:c.49760G>A (TTN) | XP_024308867.1:p.Trp16587Ter | |
| XM_024453100.1:c.39614G>A (TTN) | XP_024308868.1:p.Trp13205Ter |