Linked Data
ClinVar Variation Id:
165907
dbSNP Id:
rs374727686
gnomAD v2:
2-179452671-G-A
gnomAD v3:
2-178587944-G-A
gnomAD v4:
2-178587944-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587944G>A , CM000664.2:g.178587944G>A | GRCh38 |
| NC_000002.11:g.179452671G>A , CM000664.1:g.179452671G>A | GRCh37 |
| NC_000002.10:g.179160917G>A | NCBI36 |
| NG_011618.3:g.247859C>T , LRG_391:g.247859C>T | |
| NG_051363.1:g.70118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55759C>T (TTN) | ENSP00000343764.6:p.Arg18587Cys | |
| ENST00000342175.11:c.36844C>T (TTN) | ENSP00000340554.6:p.Arg12282Cys | |
| ENST00000359218.10:c.36643C>T (TTN) | ENSP00000352154.5:p.Arg12215Cys | |
| ENST00000342175.10:c.36844C>T (TTN) | ENSP00000340554.6:p.Arg12282Cys | |
| ENST00000342992.10:c.55759C>T (TTN) | ENSP00000343764.6:p.Arg18587Cys | |
| ENST00000359218.9:c.36643C>T (TTN) | ENSP00000352154.5:p.Arg12215Cys | |
| ENST00000460472.6:c.36268C>T (TTN) | ENSP00000434586.1:p.Arg12090Cys | |
| ENST00000589042.5:c.63463C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21155Cys | |
| ENST00000591111.5:c.58540C>T (TTN) | ENSP00000465570.1:p.Arg19514Cys | |
| ENST00000615779.4:c.58540C>T (TTN) | ENSP00000483597.1:p.Arg19514Cys | |
| NM_001256850.1:c.58540C>T (TTN) | NP_001243779.1:p.Arg19514Cys | |
| NM_001267550.2:c.63463C>T (TTN) MANE Select | NP_001254479.2:p.Arg21155Cys | |
| NM_003319.4:c.36268C>T (TTN) | NP_003310.4:p.Arg12090Cys | |
| NM_133378.4:c.55759C>T (TTN) | NP_596869.4:p.Arg18587Cys | |
| NM_133432.3:c.36643C>T (TTN) | NP_597676.3:p.Arg12215Cys | |
| NM_133437.4:c.36844C>T (TTN) | NP_597681.4:p.Arg12282Cys | |
| NR_038271.1:n.597-9652G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+2951G>A (TTN-AS1) | ||
| XM_011511729.1:c.62560C>T (TTN) | XP_011510031.1:p.Arg20854Cys | |
| XM_011511730.1:c.36454C>T (TTN) | XP_011510032.1:p.Arg12152Cys | |
| XM_011511731.1:c.36313C>T (TTN) | XP_011510033.1:p.Arg12105Cys | |
| XM_017004819.1:c.62356C>T (TTN) | XP_016860308.1:p.Arg20786Cys | |
| XM_017004820.1:c.57754C>T (TTN) | XP_016860309.1:p.Arg19252Cys | |
| XM_017004821.1:c.57751C>T (TTN) | XP_016860310.1:p.Arg19251Cys | |
| XM_017004822.1:c.54793C>T (TTN) | XP_016860311.1:p.Arg18265Cys | |
| XM_017004823.1:c.36409C>T (TTN) | XP_016860312.1:p.Arg12137Cys | |
| XM_024453094.1:c.57904C>T (TTN) | XP_024308862.1:p.Arg19302Cys | |
| XM_024453095.1:c.57901C>T (TTN) | XP_024308863.1:p.Arg19301Cys | |
| XM_024453096.1:c.57334C>T (TTN) | XP_024308864.1:p.Arg19112Cys | |
| XM_024453097.1:c.54676C>T (TTN) | XP_024308865.1:p.Arg18226Cys | |
| XM_024453098.1:c.54595C>T (TTN) | XP_024308866.1:p.Arg18199Cys | |
| XM_024453099.1:c.36358C>T (TTN) | XP_024308867.1:p.Arg12120Cys | |
| XM_024453100.1:c.26212C>T (TTN) | XP_024308868.1:p.Arg8738Cys |