Linked Data
ClinVar Variation Id:
519091
dbSNP Id:
rs757653038
ExAC:
2:179425544 G / A
gnomAD v2:
2-179425544-G-A
gnomAD v3:
2-178560817-G-A
gnomAD v4:
2-178560817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560817G>A , CM000664.2:g.178560817G>A | GRCh38 |
| NC_000002.11:g.179425544G>A , CM000664.1:g.179425544G>A | GRCh37 |
| NC_000002.10:g.179133790G>A | NCBI36 |
| NG_011618.3:g.274986C>T , LRG_391:g.274986C>T | |
| NG_051363.1:g.42991G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77611C>T (TTN) | ENSP00000343764.6:p.Arg25871Trp | |
| ENST00000342175.11:c.58696C>T (TTN) | ENSP00000340554.6:p.Arg19566Trp | |
| ENST00000359218.10:c.58495C>T (TTN) | ENSP00000352154.5:p.Arg19499Trp | |
| ENST00000342175.10:c.58696C>T (TTN) | ENSP00000340554.6:p.Arg19566Trp | |
| ENST00000342992.10:c.77611C>T (TTN) | ENSP00000343764.6:p.Arg25871Trp | |
| ENST00000359218.9:c.58495C>T (TTN) | ENSP00000352154.5:p.Arg19499Trp | |
| ENST00000460472.6:c.58120C>T (TTN) | ENSP00000434586.1:p.Arg19374Trp | |
| ENST00000589042.5:c.85315C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg28439Trp | |
| ENST00000591111.5:c.80392C>T (TTN) | ENSP00000465570.1:p.Arg26798Trp | |
| ENST00000615779.4:c.80392C>T (TTN) | ENSP00000483597.1:p.Arg26798Trp | |
| NM_001256850.1:c.80392C>T (TTN) | NP_001243779.1:p.Arg26798Trp | |
| NM_001267550.2:c.85315C>T (TTN) MANE Select | NP_001254479.2:p.Arg28439Trp | |
| NM_003319.4:c.58120C>T (TTN) | NP_003310.4:p.Arg19374Trp | |
| NM_133378.4:c.77611C>T (TTN) | NP_596869.4:p.Arg25871Trp | |
| NM_133432.3:c.58495C>T (TTN) | NP_597676.3:p.Arg19499Trp | |
| NM_133437.4:c.58696C>T (TTN) | NP_597681.4:p.Arg19566Trp | |
| NR_038271.1:n.447-10483G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+18456G>A (TTN-AS1) | ||
| XM_011511729.1:c.84412C>T (TTN) | XP_011510031.1:p.Arg28138Trp | |
| XM_011511730.1:c.58306C>T (TTN) | XP_011510032.1:p.Arg19436Trp | |
| XM_011511731.1:c.58165C>T (TTN) | XP_011510033.1:p.Arg19389Trp | |
| XM_017004819.1:c.84208C>T (TTN) | XP_016860308.1:p.Arg28070Trp | |
| XM_017004820.1:c.79606C>T (TTN) | XP_016860309.1:p.Arg26536Trp | |
| XM_017004821.1:c.79603C>T (TTN) | XP_016860310.1:p.Arg26535Trp | |
| XM_017004822.1:c.76645C>T (TTN) | XP_016860311.1:p.Arg25549Trp | |
| XM_017004823.1:c.58261C>T (TTN) | XP_016860312.1:p.Arg19421Trp | |
| XM_024453094.1:c.79756C>T (TTN) | XP_024308862.1:p.Arg26586Trp | |
| XM_024453095.1:c.79753C>T (TTN) | XP_024308863.1:p.Arg26585Trp | |
| XM_024453096.1:c.79186C>T (TTN) | XP_024308864.1:p.Arg26396Trp | |
| XM_024453097.1:c.76528C>T (TTN) | XP_024308865.1:p.Arg25510Trp | |
| XM_024453098.1:c.76447C>T (TTN) | XP_024308866.1:p.Arg25483Trp | |
| XM_024453099.1:c.58210C>T (TTN) | XP_024308867.1:p.Arg19404Trp | |
| XM_024453100.1:c.48064C>T (TTN) | XP_024308868.1:p.Arg16022Trp |