Linked Data
ClinVar Variation Id:
223300
dbSNP Id:
rs869312065
gnomAD v4:
2-178548943-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548943G>A , CM000664.2:g.178548943G>A | GRCh38 |
| NC_000002.11:g.179413670G>A , CM000664.1:g.179413670G>A | GRCh37 |
| NC_000002.10:g.179121916G>A | NCBI36 |
| NG_011618.3:g.286860C>T , LRG_391:g.286860C>T | |
| NG_051363.1:g.31117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84979C>T (TTN) | ENSP00000343764.6:p.Arg28327Ter | |
| ENST00000342175.11:c.66064C>T (TTN) | ENSP00000340554.6:p.Arg22022Ter | |
| ENST00000359218.10:c.65863C>T (TTN) | ENSP00000352154.5:p.Arg21955Ter | |
| ENST00000342175.10:c.66064C>T (TTN) | ENSP00000340554.6:p.Arg22022Ter | |
| ENST00000342992.10:c.84979C>T (TTN) | ENSP00000343764.6:p.Arg28327Ter | |
| ENST00000359218.9:c.65863C>T (TTN) | ENSP00000352154.5:p.Arg21955Ter | |
| ENST00000460472.6:c.65488C>T (TTN) | ENSP00000434586.1:p.Arg21830Ter | |
| ENST00000589042.5:c.92683C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg30895Ter | |
| ENST00000591111.5:c.87760C>T (TTN) | ENSP00000465570.1:p.Arg29254Ter | |
| ENST00000615779.4:c.87760C>T (TTN) | ENSP00000483597.1:p.Arg29254Ter | |
| NM_001256850.1:c.87760C>T (TTN) | NP_001243779.1:p.Arg29254Ter | |
| NM_001267550.2:c.92683C>T (TTN) MANE Select | NP_001254479.2:p.Arg30895Ter | |
| NM_003319.4:c.65488C>T (TTN) | NP_003310.4:p.Arg21830Ter | |
| NM_133378.4:c.84979C>T (TTN) | NP_596869.4:p.Arg28327Ter | |
| NM_133432.3:c.65863C>T (TTN) | NP_597676.3:p.Arg21955Ter | |
| NM_133437.4:c.66064C>T (TTN) | NP_597681.4:p.Arg22022Ter | |
| NR_038271.1:n.447-22357G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6582G>A (TTN-AS1) | ||
| XM_011511729.1:c.91780C>T (TTN) | XP_011510031.1:p.Arg30594Ter | |
| XM_011511730.1:c.65674C>T (TTN) | XP_011510032.1:p.Arg21892Ter | |
| XM_011511731.1:c.65533C>T (TTN) | XP_011510033.1:p.Arg21845Ter | |
| XM_017004819.1:c.91576C>T (TTN) | XP_016860308.1:p.Arg30526Ter | |
| XM_017004820.1:c.86974C>T (TTN) | XP_016860309.1:p.Arg28992Ter | |
| XM_017004821.1:c.86971C>T (TTN) | XP_016860310.1:p.Arg28991Ter | |
| XM_017004822.1:c.84013C>T (TTN) | XP_016860311.1:p.Arg28005Ter | |
| XM_017004823.1:c.65629C>T (TTN) | XP_016860312.1:p.Arg21877Ter | |
| XM_024453094.1:c.87124C>T (TTN) | XP_024308862.1:p.Arg29042Ter | |
| XM_024453095.1:c.87121C>T (TTN) | XP_024308863.1:p.Arg29041Ter | |
| XM_024453096.1:c.86554C>T (TTN) | XP_024308864.1:p.Arg28852Ter | |
| XM_024453097.1:c.83896C>T (TTN) | XP_024308865.1:p.Arg27966Ter | |
| XM_024453098.1:c.83815C>T (TTN) | XP_024308866.1:p.Arg27939Ter | |
| XM_024453099.1:c.65578C>T (TTN) | XP_024308867.1:p.Arg21860Ter | |
| XM_024453100.1:c.55432C>T (TTN) | XP_024308868.1:p.Arg18478Ter |