Linked Data
ClinVar Variation Id:
388202
dbSNP Id:
rs772842119
ExAC:
2:179426604 G / T
gnomAD v2:
2-179426604-G-T
gnomAD v3:
2-178561877-G-T
gnomAD v4:
2-178561877-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561877G>T , CM000664.2:g.178561877G>T | GRCh38 |
| NC_000002.11:g.179426604G>T , CM000664.1:g.179426604G>T | GRCh37 |
| NC_000002.10:g.179134850G>T | NCBI36 |
| NG_011618.3:g.273926C>A , LRG_391:g.273926C>A | |
| NG_051363.1:g.44051G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76551C>A (TTN) | ENSP00000343764.6:p.Cys25517Ter | |
| ENST00000342175.11:c.57636C>A (TTN) | ENSP00000340554.6:p.Cys19212Ter | |
| ENST00000359218.10:c.57435C>A (TTN) | ENSP00000352154.5:p.Cys19145Ter | |
| ENST00000342175.10:c.57636C>A (TTN) | ENSP00000340554.6:p.Cys19212Ter | |
| ENST00000342992.10:c.76551C>A (TTN) | ENSP00000343764.6:p.Cys25517Ter | |
| ENST00000359218.9:c.57435C>A (TTN) | ENSP00000352154.5:p.Cys19145Ter | |
| ENST00000460472.6:c.57060C>A (TTN) | ENSP00000434586.1:p.Cys19020Ter | |
| ENST00000589042.5:c.84255C>A (TTN) MANE Select | ENSP00000467141.1:p.Cys28085Ter | |
| ENST00000591111.5:c.79332C>A (TTN) | ENSP00000465570.1:p.Cys26444Ter | |
| ENST00000615779.4:c.79332C>A (TTN) | ENSP00000483597.1:p.Cys26444Ter | |
| NM_001256850.1:c.79332C>A (TTN) | NP_001243779.1:p.Cys26444Ter | |
| NM_001267550.2:c.84255C>A (TTN) MANE Select | NP_001254479.2:p.Cys28085Ter | |
| NM_003319.4:c.57060C>A (TTN) | NP_003310.4:p.Cys19020Ter | |
| NM_133378.4:c.76551C>A (TTN) | NP_596869.4:p.Cys25517Ter | |
| NM_133432.3:c.57435C>A (TTN) | NP_597676.3:p.Cys19145Ter | |
| NM_133437.4:c.57636C>A (TTN) | NP_597681.4:p.Cys19212Ter | |
| NR_038271.1:n.447-9423G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+19516G>T (TTN-AS1) | ||
| XM_011511729.1:c.83352C>A (TTN) | XP_011510031.1:p.Cys27784Ter | |
| XM_011511730.1:c.57246C>A (TTN) | XP_011510032.1:p.Cys19082Ter | |
| XM_011511731.1:c.57105C>A (TTN) | XP_011510033.1:p.Cys19035Ter | |
| XM_017004819.1:c.83148C>A (TTN) | XP_016860308.1:p.Cys27716Ter | |
| XM_017004820.1:c.78546C>A (TTN) | XP_016860309.1:p.Cys26182Ter | |
| XM_017004821.1:c.78543C>A (TTN) | XP_016860310.1:p.Cys26181Ter | |
| XM_017004822.1:c.75585C>A (TTN) | XP_016860311.1:p.Cys25195Ter | |
| XM_017004823.1:c.57201C>A (TTN) | XP_016860312.1:p.Cys19067Ter | |
| XM_024453094.1:c.78696C>A (TTN) | XP_024308862.1:p.Cys26232Ter | |
| XM_024453095.1:c.78693C>A (TTN) | XP_024308863.1:p.Cys26231Ter | |
| XM_024453096.1:c.78126C>A (TTN) | XP_024308864.1:p.Cys26042Ter | |
| XM_024453097.1:c.75468C>A (TTN) | XP_024308865.1:p.Cys25156Ter | |
| XM_024453098.1:c.75387C>A (TTN) | XP_024308866.1:p.Cys25129Ter | |
| XM_024453099.1:c.57150C>A (TTN) | XP_024308867.1:p.Cys19050Ter | |
| XM_024453100.1:c.47004C>A (TTN) | XP_024308868.1:p.Cys15668Ter |