Linked Data
ClinVar Variation Id:
47233
dbSNP Id:
rs72646868
ExAC:
2:179447097 C / T
gnomAD v2:
2-179447097-C-T
gnomAD v3:
2-178582370-C-T
gnomAD v4:
2-178582370-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582370C>T , CM000664.2:g.178582370C>T | GRCh38 |
| NC_000002.11:g.179447097C>T , CM000664.1:g.179447097C>T | GRCh37 |
| NC_000002.10:g.179155343C>T | NCBI36 |
| NG_011618.3:g.253433G>A , LRG_391:g.253433G>A | |
| NG_051363.1:g.64544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58382G>A (TTN) | ENSP00000343764.6:p.Arg19461His | |
| ENST00000342175.11:c.39467G>A (TTN) | ENSP00000340554.6:p.Arg13156His | |
| ENST00000359218.10:c.39266G>A (TTN) | ENSP00000352154.5:p.Arg13089His | |
| ENST00000342175.10:c.39467G>A (TTN) | ENSP00000340554.6:p.Arg13156His | |
| ENST00000342992.10:c.58382G>A (TTN) | ENSP00000343764.6:p.Arg19461His | |
| ENST00000359218.9:c.39266G>A (TTN) | ENSP00000352154.5:p.Arg13089His | |
| ENST00000460472.6:c.38891G>A (TTN) | ENSP00000434586.1:p.Arg12964His | |
| ENST00000589042.5:c.66086G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg22029His | |
| ENST00000591111.5:c.61163G>A (TTN) | ENSP00000465570.1:p.Arg20388His | |
| ENST00000615779.4:c.61163G>A (TTN) | ENSP00000483597.1:p.Arg20388His | |
| NM_001256850.1:c.61163G>A (TTN) | NP_001243779.1:p.Arg20388His | |
| NM_001267550.2:c.66086G>A (TTN) MANE Select | NP_001254479.2:p.Arg22029His | |
| NM_003319.4:c.38891G>A (TTN) | NP_003310.4:p.Arg12964His | |
| NM_133378.4:c.58382G>A (TTN) | NP_596869.4:p.Arg19461His | |
| NM_133432.3:c.39266G>A (TTN) | NP_597676.3:p.Arg13089His | |
| NM_133437.4:c.39467G>A (TTN) | NP_597681.4:p.Arg13156His | |
| NR_038271.1:n.596+10921C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-202C>T (TTN-AS1) | ||
| XM_011511729.1:c.65183G>A (TTN) | XP_011510031.1:p.Arg21728His | |
| XM_011511730.1:c.39077G>A (TTN) | XP_011510032.1:p.Arg13026His | |
| XM_011511731.1:c.38936G>A (TTN) | XP_011510033.1:p.Arg12979His | |
| XM_017004819.1:c.64979G>A (TTN) | XP_016860308.1:p.Arg21660His | |
| XM_017004820.1:c.60377G>A (TTN) | XP_016860309.1:p.Arg20126His | |
| XM_017004821.1:c.60374G>A (TTN) | XP_016860310.1:p.Arg20125His | |
| XM_017004822.1:c.57416G>A (TTN) | XP_016860311.1:p.Arg19139His | |
| XM_017004823.1:c.39032G>A (TTN) | XP_016860312.1:p.Arg13011His | |
| XM_024453094.1:c.60527G>A (TTN) | XP_024308862.1:p.Arg20176His | |
| XM_024453095.1:c.60524G>A (TTN) | XP_024308863.1:p.Arg20175His | |
| XM_024453096.1:c.59957G>A (TTN) | XP_024308864.1:p.Arg19986His | |
| XM_024453097.1:c.57299G>A (TTN) | XP_024308865.1:p.Arg19100His | |
| XM_024453098.1:c.57218G>A (TTN) | XP_024308866.1:p.Arg19073His | |
| XM_024453099.1:c.38981G>A (TTN) | XP_024308867.1:p.Arg12994His | |
| XM_024453100.1:c.28835G>A (TTN) | XP_024308868.1:p.Arg9612His |