Linked Data
ClinVar Variation Id:
488732
dbSNP Id:
rs748689777
gnomAD v4:
2-178560364-G-A
PubMed:
PMID:25363768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560364G>A , CM000664.2:g.178560364G>A | GRCh38 |
| NC_000002.11:g.179425091G>A , CM000664.1:g.179425091G>A | GRCh37 |
| NC_000002.10:g.179133337G>A | NCBI36 |
| NG_011618.3:g.275439C>T , LRG_391:g.275439C>T | |
| NG_051363.1:g.42538G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78064C>T (TTN) | ENSP00000343764.6:p.Arg26022Ter | |
| ENST00000342175.11:c.59149C>T (TTN) | ENSP00000340554.6:p.Arg19717Ter | |
| ENST00000359218.10:c.58948C>T (TTN) | ENSP00000352154.5:p.Arg19650Ter | |
| ENST00000342175.10:c.59149C>T (TTN) | ENSP00000340554.6:p.Arg19717Ter | |
| ENST00000342992.10:c.78064C>T (TTN) | ENSP00000343764.6:p.Arg26022Ter | |
| ENST00000359218.9:c.58948C>T (TTN) | ENSP00000352154.5:p.Arg19650Ter | |
| ENST00000460472.6:c.58573C>T (TTN) | ENSP00000434586.1:p.Arg19525Ter | |
| ENST00000589042.5:c.85768C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg28590Ter | |
| ENST00000591111.5:c.80845C>T (TTN) | ENSP00000465570.1:p.Arg26949Ter | |
| ENST00000615779.4:c.80845C>T (TTN) | ENSP00000483597.1:p.Arg26949Ter | |
| NM_001256850.1:c.80845C>T (TTN) | NP_001243779.1:p.Arg26949Ter | |
| NM_001267550.2:c.85768C>T (TTN) MANE Select | NP_001254479.2:p.Arg28590Ter | |
| NM_003319.4:c.58573C>T (TTN) | NP_003310.4:p.Arg19525Ter | |
| NM_133378.4:c.78064C>T (TTN) | NP_596869.4:p.Arg26022Ter | |
| NM_133432.3:c.58948C>T (TTN) | NP_597676.3:p.Arg19650Ter | |
| NM_133437.4:c.59149C>T (TTN) | NP_597681.4:p.Arg19717Ter | |
| NR_038271.1:n.447-10936G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+18003G>A (TTN-AS1) | ||
| XM_011511729.1:c.84865C>T (TTN) | XP_011510031.1:p.Arg28289Ter | |
| XM_011511730.1:c.58759C>T (TTN) | XP_011510032.1:p.Arg19587Ter | |
| XM_011511731.1:c.58618C>T (TTN) | XP_011510033.1:p.Arg19540Ter | |
| XM_017004819.1:c.84661C>T (TTN) | XP_016860308.1:p.Arg28221Ter | |
| XM_017004820.1:c.80059C>T (TTN) | XP_016860309.1:p.Arg26687Ter | |
| XM_017004821.1:c.80056C>T (TTN) | XP_016860310.1:p.Arg26686Ter | |
| XM_017004822.1:c.77098C>T (TTN) | XP_016860311.1:p.Arg25700Ter | |
| XM_017004823.1:c.58714C>T (TTN) | XP_016860312.1:p.Arg19572Ter | |
| XM_024453094.1:c.80209C>T (TTN) | XP_024308862.1:p.Arg26737Ter | |
| XM_024453095.1:c.80206C>T (TTN) | XP_024308863.1:p.Arg26736Ter | |
| XM_024453096.1:c.79639C>T (TTN) | XP_024308864.1:p.Arg26547Ter | |
| XM_024453097.1:c.76981C>T (TTN) | XP_024308865.1:p.Arg25661Ter | |
| XM_024453098.1:c.76900C>T (TTN) | XP_024308866.1:p.Arg25634Ter | |
| XM_024453099.1:c.58663C>T (TTN) | XP_024308867.1:p.Arg19555Ter | |
| XM_024453100.1:c.48517C>T (TTN) | XP_024308868.1:p.Arg16173Ter |