Linked Data
ClinVar Variation Id:
509582
dbSNP Id:
rs538641703
ExAC:
2:179424988 C / T
gnomAD v2:
2-179424988-C-T
gnomAD v3:
2-178560261-C-T
gnomAD v4:
2-178560261-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560261C>T , CM000664.2:g.178560261C>T | GRCh38 |
| NC_000002.11:g.179424988C>T , CM000664.1:g.179424988C>T | GRCh37 |
| NC_000002.10:g.179133234C>T | NCBI36 |
| NG_011618.3:g.275542G>A , LRG_391:g.275542G>A | |
| NG_051363.1:g.42435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78167G>A (TTN) | ENSP00000343764.6:p.Arg26056His | |
| ENST00000342175.11:c.59252G>A (TTN) | ENSP00000340554.6:p.Arg19751His | |
| ENST00000359218.10:c.59051G>A (TTN) | ENSP00000352154.5:p.Arg19684His | |
| ENST00000342175.10:c.59252G>A (TTN) | ENSP00000340554.6:p.Arg19751His | |
| ENST00000342992.10:c.78167G>A (TTN) | ENSP00000343764.6:p.Arg26056His | |
| ENST00000359218.9:c.59051G>A (TTN) | ENSP00000352154.5:p.Arg19684His | |
| ENST00000460472.6:c.58676G>A (TTN) | ENSP00000434586.1:p.Arg19559His | |
| ENST00000589042.5:c.85871G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28624His | |
| ENST00000591111.5:c.80948G>A (TTN) | ENSP00000465570.1:p.Arg26983His | |
| ENST00000615779.4:c.80948G>A (TTN) | ENSP00000483597.1:p.Arg26983His | |
| NM_001256850.1:c.80948G>A (TTN) | NP_001243779.1:p.Arg26983His | |
| NM_001267550.2:c.85871G>A (TTN) MANE Select | NP_001254479.2:p.Arg28624His | |
| NM_003319.4:c.58676G>A (TTN) | NP_003310.4:p.Arg19559His | |
| NM_133378.4:c.78167G>A (TTN) | NP_596869.4:p.Arg26056His | |
| NM_133432.3:c.59051G>A (TTN) | NP_597676.3:p.Arg19684His | |
| NM_133437.4:c.59252G>A (TTN) | NP_597681.4:p.Arg19751His | |
| NR_038271.1:n.447-11039C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+17900C>T (TTN-AS1) | ||
| XM_011511729.1:c.84968G>A (TTN) | XP_011510031.1:p.Arg28323His | |
| XM_011511730.1:c.58862G>A (TTN) | XP_011510032.1:p.Arg19621His | |
| XM_011511731.1:c.58721G>A (TTN) | XP_011510033.1:p.Arg19574His | |
| XM_017004819.1:c.84764G>A (TTN) | XP_016860308.1:p.Arg28255His | |
| XM_017004820.1:c.80162G>A (TTN) | XP_016860309.1:p.Arg26721His | |
| XM_017004821.1:c.80159G>A (TTN) | XP_016860310.1:p.Arg26720His | |
| XM_017004822.1:c.77201G>A (TTN) | XP_016860311.1:p.Arg25734His | |
| XM_017004823.1:c.58817G>A (TTN) | XP_016860312.1:p.Arg19606His | |
| XM_024453094.1:c.80312G>A (TTN) | XP_024308862.1:p.Arg26771His | |
| XM_024453095.1:c.80309G>A (TTN) | XP_024308863.1:p.Arg26770His | |
| XM_024453096.1:c.79742G>A (TTN) | XP_024308864.1:p.Arg26581His | |
| XM_024453097.1:c.77084G>A (TTN) | XP_024308865.1:p.Arg25695His | |
| XM_024453098.1:c.77003G>A (TTN) | XP_024308866.1:p.Arg25668His | |
| XM_024453099.1:c.58766G>A (TTN) | XP_024308867.1:p.Arg19589His | |
| XM_024453100.1:c.48620G>A (TTN) | XP_024308868.1:p.Arg16207His |