Linked Data
ClinVar Variation Id:
178177
dbSNP Id:
rs202001776
ExAC:
2:179422111 C / T
gnomAD v2:
2-179422111-C-T
gnomAD v3:
2-178557384-C-T
gnomAD v4:
2-178557384-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557384C>T , CM000664.2:g.178557384C>T | GRCh38 |
| NC_000002.11:g.179422111C>T , CM000664.1:g.179422111C>T | GRCh37 |
| NC_000002.10:g.179130357C>T | NCBI36 |
| NG_011618.3:g.278419G>A , LRG_391:g.278419G>A | |
| NG_051363.1:g.39558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80174G>A (TTN) | ENSP00000343764.6:p.Arg26725His | |
| ENST00000342175.11:c.61259G>A (TTN) | ENSP00000340554.6:p.Arg20420His | |
| ENST00000359218.10:c.61058G>A (TTN) | ENSP00000352154.5:p.Arg20353His | |
| ENST00000342175.10:c.61259G>A (TTN) | ENSP00000340554.6:p.Arg20420His | |
| ENST00000342992.10:c.80174G>A (TTN) | ENSP00000343764.6:p.Arg26725His | |
| ENST00000359218.9:c.61058G>A (TTN) | ENSP00000352154.5:p.Arg20353His | |
| ENST00000460472.6:c.60683G>A (TTN) | ENSP00000434586.1:p.Arg20228His | |
| ENST00000589042.5:c.87878G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg29293His | |
| ENST00000591111.5:c.82955G>A (TTN) | ENSP00000465570.1:p.Arg27652His | |
| ENST00000615779.4:c.82955G>A (TTN) | ENSP00000483597.1:p.Arg27652His | |
| NM_001256850.1:c.82955G>A (TTN) | NP_001243779.1:p.Arg27652His | |
| NM_001267550.2:c.87878G>A (TTN) MANE Select | NP_001254479.2:p.Arg29293His | |
| NM_003319.4:c.60683G>A (TTN) | NP_003310.4:p.Arg20228His | |
| NM_133378.4:c.80174G>A (TTN) | NP_596869.4:p.Arg26725His | |
| NM_133432.3:c.61058G>A (TTN) | NP_597676.3:p.Arg20353His | |
| NM_133437.4:c.61259G>A (TTN) | NP_597681.4:p.Arg20420His | |
| NR_038271.1:n.447-13916C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15023C>T (TTN-AS1) | ||
| XM_011511729.1:c.86975G>A (TTN) | XP_011510031.1:p.Arg28992His | |
| XM_011511730.1:c.60869G>A (TTN) | XP_011510032.1:p.Arg20290His | |
| XM_011511731.1:c.60728G>A (TTN) | XP_011510033.1:p.Arg20243His | |
| XM_017004819.1:c.86771G>A (TTN) | XP_016860308.1:p.Arg28924His | |
| XM_017004820.1:c.82169G>A (TTN) | XP_016860309.1:p.Arg27390His | |
| XM_017004821.1:c.82166G>A (TTN) | XP_016860310.1:p.Arg27389His | |
| XM_017004822.1:c.79208G>A (TTN) | XP_016860311.1:p.Arg26403His | |
| XM_017004823.1:c.60824G>A (TTN) | XP_016860312.1:p.Arg20275His | |
| XM_024453094.1:c.82319G>A (TTN) | XP_024308862.1:p.Arg27440His | |
| XM_024453095.1:c.82316G>A (TTN) | XP_024308863.1:p.Arg27439His | |
| XM_024453096.1:c.81749G>A (TTN) | XP_024308864.1:p.Arg27250His | |
| XM_024453097.1:c.79091G>A (TTN) | XP_024308865.1:p.Arg26364His | |
| XM_024453098.1:c.79010G>A (TTN) | XP_024308866.1:p.Arg26337His | |
| XM_024453099.1:c.60773G>A (TTN) | XP_024308867.1:p.Arg20258His | |
| XM_024453100.1:c.50627G>A (TTN) | XP_024308868.1:p.Arg16876His |