Linked Data
ClinVar Variation Id:
404962
dbSNP Id:
rs143193258
ExAC:
2:179419672 C / T
gnomAD v2:
2-179419672-C-T
gnomAD v3:
2-178554945-C-T
gnomAD v4:
2-178554945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554945C>T , CM000664.2:g.178554945C>T | GRCh38 |
| NC_000002.11:g.179419672C>T , CM000664.1:g.179419672C>T | GRCh37 |
| NC_000002.10:g.179127918C>T | NCBI36 |
| NG_011618.3:g.280858G>A , LRG_391:g.280858G>A | |
| NG_051363.1:g.37119C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80810G>A (TTN) | ENSP00000343764.6:p.Arg26937His | |
| ENST00000342175.11:c.61895G>A (TTN) | ENSP00000340554.6:p.Arg20632His | |
| ENST00000359218.10:c.61694G>A (TTN) | ENSP00000352154.5:p.Arg20565His | |
| ENST00000342175.10:c.61895G>A (TTN) | ENSP00000340554.6:p.Arg20632His | |
| ENST00000342992.10:c.80810G>A (TTN) | ENSP00000343764.6:p.Arg26937His | |
| ENST00000359218.9:c.61694G>A (TTN) | ENSP00000352154.5:p.Arg20565His | |
| ENST00000460472.6:c.61319G>A (TTN) | ENSP00000434586.1:p.Arg20440His | |
| ENST00000589042.5:c.88514G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg29505His | |
| ENST00000591111.5:c.83591G>A (TTN) | ENSP00000465570.1:p.Arg27864His | |
| ENST00000615779.4:c.83591G>A (TTN) | ENSP00000483597.1:p.Arg27864His | |
| NM_001256850.1:c.83591G>A (TTN) | NP_001243779.1:p.Arg27864His | |
| NM_001267550.2:c.88514G>A (TTN) MANE Select | NP_001254479.2:p.Arg29505His | |
| NM_003319.4:c.61319G>A (TTN) | NP_003310.4:p.Arg20440His | |
| NM_133378.4:c.80810G>A (TTN) | NP_596869.4:p.Arg26937His | |
| NM_133432.3:c.61694G>A (TTN) | NP_597676.3:p.Arg20565His | |
| NM_133437.4:c.61895G>A (TTN) | NP_597681.4:p.Arg20632His | |
| NR_038271.1:n.447-16355C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+12584C>T (TTN-AS1) | ||
| XM_011511729.1:c.87611G>A (TTN) | XP_011510031.1:p.Arg29204His | |
| XM_011511730.1:c.61505G>A (TTN) | XP_011510032.1:p.Arg20502His | |
| XM_011511731.1:c.61364G>A (TTN) | XP_011510033.1:p.Arg20455His | |
| XM_017004819.1:c.87407G>A (TTN) | XP_016860308.1:p.Arg29136His | |
| XM_017004820.1:c.82805G>A (TTN) | XP_016860309.1:p.Arg27602His | |
| XM_017004821.1:c.82802G>A (TTN) | XP_016860310.1:p.Arg27601His | |
| XM_017004822.1:c.79844G>A (TTN) | XP_016860311.1:p.Arg26615His | |
| XM_017004823.1:c.61460G>A (TTN) | XP_016860312.1:p.Arg20487His | |
| XM_024453094.1:c.82955G>A (TTN) | XP_024308862.1:p.Arg27652His | |
| XM_024453095.1:c.82952G>A (TTN) | XP_024308863.1:p.Arg27651His | |
| XM_024453096.1:c.82385G>A (TTN) | XP_024308864.1:p.Arg27462His | |
| XM_024453097.1:c.79727G>A (TTN) | XP_024308865.1:p.Arg26576His | |
| XM_024453098.1:c.79646G>A (TTN) | XP_024308866.1:p.Arg26549His | |
| XM_024453099.1:c.61409G>A (TTN) | XP_024308867.1:p.Arg20470His | |
| XM_024453100.1:c.51263G>A (TTN) | XP_024308868.1:p.Arg17088His |