Linked Data
ClinVar Variation Id:
178209
dbSNP Id:
rs368502650
ExAC:
2:179483349 T / C
gnomAD v2:
2-179483349-T-C
gnomAD v3:
2-178618622-T-C
gnomAD v4:
2-178618622-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618622T>C , CM000664.2:g.178618622T>C | GRCh38 |
| NC_000002.11:g.179483349T>C , CM000664.1:g.179483349T>C | GRCh37 |
| NC_000002.10:g.179191594T>C | NCBI36 |
| NG_011618.3:g.217181A>G , LRG_391:g.217181A>G | |
| NG_051363.1:g.100796T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39224A>G (TTN) | ENSP00000343764.6:p.His13075Arg | |
| ENST00000342175.11:c.20309A>G (TTN) | ENSP00000340554.6:p.His6770Arg | |
| ENST00000359218.10:c.20108A>G (TTN) | ENSP00000352154.5:p.His6703Arg | |
| ENST00000342175.10:c.20309A>G (TTN) | ENSP00000340554.6:p.His6770Arg | |
| ENST00000342992.10:c.39224A>G (TTN) | ENSP00000343764.6:p.His13075Arg | |
| ENST00000359218.9:c.20108A>G (TTN) | ENSP00000352154.5:p.His6703Arg | |
| ENST00000460472.6:c.19733A>G (TTN) | ENSP00000434586.1:p.His6578Arg | |
| ENST00000589042.5:c.46928A>G (TTN) MANE Select | ENSP00000467141.1:p.His15643Arg | |
| ENST00000591111.5:c.42005A>G (TTN) | ENSP00000465570.1:p.His14002Arg | |
| ENST00000615779.4:c.42005A>G (TTN) | ENSP00000483597.1:p.His14002Arg | |
| NM_001256850.1:c.42005A>G (TTN) | NP_001243779.1:p.His14002Arg | |
| NM_001267550.2:c.46928A>G (TTN) MANE Select | NP_001254479.2:p.His15643Arg | |
| NM_003319.4:c.19733A>G (TTN) | NP_003310.4:p.His6578Arg | |
| NM_133378.4:c.39224A>G (TTN) | NP_596869.4:p.His13075Arg | |
| NM_133432.3:c.20108A>G (TTN) | NP_597676.3:p.His6703Arg | |
| NM_133437.4:c.20309A>G (TTN) | NP_597681.4:p.His6770Arg | |
| NR_038271.1:n.1605-1131T>C (TTN-AS1) | ||
| XM_011511729.1:c.46025A>G (TTN) | XP_011510031.1:p.His15342Arg | |
| XM_011511730.1:c.19919A>G (TTN) | XP_011510032.1:p.His6640Arg | |
| XM_011511731.1:c.19778A>G (TTN) | XP_011510033.1:p.His6593Arg | |
| XM_017004819.1:c.45821A>G (TTN) | XP_016860308.1:p.His15274Arg | |
| XM_017004820.1:c.41219A>G (TTN) | XP_016860309.1:p.His13740Arg | |
| XM_017004821.1:c.41216A>G (TTN) | XP_016860310.1:p.His13739Arg | |
| XM_017004822.1:c.38258A>G (TTN) | XP_016860311.1:p.His12753Arg | |
| XM_017004823.1:c.19874A>G (TTN) | XP_016860312.1:p.His6625Arg | |
| XM_024453094.1:c.41369A>G (TTN) | XP_024308862.1:p.His13790Arg | |
| XM_024453095.1:c.41366A>G (TTN) | XP_024308863.1:p.His13789Arg | |
| XM_024453096.1:c.40799A>G (TTN) | XP_024308864.1:p.His13600Arg | |
| XM_024453097.1:c.38141A>G (TTN) | XP_024308865.1:p.His12714Arg | |
| XM_024453098.1:c.38060A>G (TTN) | XP_024308866.1:p.His12687Arg | |
| XM_024453099.1:c.19823A>G (TTN) | XP_024308867.1:p.His6608Arg | |
| XM_024453100.1:c.9677A>G (TTN) | XP_024308868.1:p.His3226Arg |