Linked Data
ClinVar Variation Id:
179908
dbSNP Id:
rs199788826
ExAC:
2:179424742 C / T
gnomAD v2:
2-179424742-C-T
gnomAD v3:
2-178560015-C-T
gnomAD v4:
2-178560015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560015C>T , CM000664.2:g.178560015C>T | GRCh38 |
| NC_000002.11:g.179424742C>T , CM000664.1:g.179424742C>T | GRCh37 |
| NC_000002.10:g.179132988C>T | NCBI36 |
| NG_011618.3:g.275788G>A , LRG_391:g.275788G>A | |
| NG_051363.1:g.42189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78413G>A (TTN) | ENSP00000343764.6:p.Arg26138Gln | |
| ENST00000342175.11:c.59498G>A (TTN) | ENSP00000340554.6:p.Arg19833Gln | |
| ENST00000359218.10:c.59297G>A (TTN) | ENSP00000352154.5:p.Arg19766Gln | |
| ENST00000342175.10:c.59498G>A (TTN) | ENSP00000340554.6:p.Arg19833Gln | |
| ENST00000342992.10:c.78413G>A (TTN) | ENSP00000343764.6:p.Arg26138Gln | |
| ENST00000359218.9:c.59297G>A (TTN) | ENSP00000352154.5:p.Arg19766Gln | |
| ENST00000460472.6:c.58922G>A (TTN) | ENSP00000434586.1:p.Arg19641Gln | |
| ENST00000589042.5:c.86117G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28706Gln | |
| ENST00000591111.5:c.81194G>A (TTN) | ENSP00000465570.1:p.Arg27065Gln | |
| ENST00000615779.4:c.81194G>A (TTN) | ENSP00000483597.1:p.Arg27065Gln | |
| NM_001256850.1:c.81194G>A (TTN) | NP_001243779.1:p.Arg27065Gln | |
| NM_001267550.2:c.86117G>A (TTN) MANE Select | NP_001254479.2:p.Arg28706Gln | |
| NM_003319.4:c.58922G>A (TTN) | NP_003310.4:p.Arg19641Gln | |
| NM_133378.4:c.78413G>A (TTN) | NP_596869.4:p.Arg26138Gln | |
| NM_133432.3:c.59297G>A (TTN) | NP_597676.3:p.Arg19766Gln | |
| NM_133437.4:c.59498G>A (TTN) | NP_597681.4:p.Arg19833Gln | |
| NR_038271.1:n.447-11285C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+17654C>T (TTN-AS1) | ||
| XM_011511729.1:c.85214G>A (TTN) | XP_011510031.1:p.Arg28405Gln | |
| XM_011511730.1:c.59108G>A (TTN) | XP_011510032.1:p.Arg19703Gln | |
| XM_011511731.1:c.58967G>A (TTN) | XP_011510033.1:p.Arg19656Gln | |
| XM_017004819.1:c.85010G>A (TTN) | XP_016860308.1:p.Arg28337Gln | |
| XM_017004820.1:c.80408G>A (TTN) | XP_016860309.1:p.Arg26803Gln | |
| XM_017004821.1:c.80405G>A (TTN) | XP_016860310.1:p.Arg26802Gln | |
| XM_017004822.1:c.77447G>A (TTN) | XP_016860311.1:p.Arg25816Gln | |
| XM_017004823.1:c.59063G>A (TTN) | XP_016860312.1:p.Arg19688Gln | |
| XM_024453094.1:c.80558G>A (TTN) | XP_024308862.1:p.Arg26853Gln | |
| XM_024453095.1:c.80555G>A (TTN) | XP_024308863.1:p.Arg26852Gln | |
| XM_024453096.1:c.79988G>A (TTN) | XP_024308864.1:p.Arg26663Gln | |
| XM_024453097.1:c.77330G>A (TTN) | XP_024308865.1:p.Arg25777Gln | |
| XM_024453098.1:c.77249G>A (TTN) | XP_024308866.1:p.Arg25750Gln | |
| XM_024453099.1:c.59012G>A (TTN) | XP_024308867.1:p.Arg19671Gln | |
| XM_024453100.1:c.48866G>A (TTN) | XP_024308868.1:p.Arg16289Gln |