Linked Data
ClinVar Variation Id:
202928
dbSNP Id:
rs376283153
ExAC:
2:179425768 C / T
gnomAD v2:
2-179425768-C-T
gnomAD v3:
2-178561041-C-T
gnomAD v4:
2-178561041-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561041C>T , CM000664.2:g.178561041C>T | GRCh38 |
| NC_000002.11:g.179425768C>T , CM000664.1:g.179425768C>T | GRCh37 |
| NC_000002.10:g.179134014C>T | NCBI36 |
| NG_011618.3:g.274762G>A , LRG_391:g.274762G>A | |
| NG_051363.1:g.43215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77387G>A (TTN) | ENSP00000343764.6:p.Arg25796Gln | |
| ENST00000342175.11:c.58472G>A (TTN) | ENSP00000340554.6:p.Arg19491Gln | |
| ENST00000359218.10:c.58271G>A (TTN) | ENSP00000352154.5:p.Arg19424Gln | |
| ENST00000342175.10:c.58472G>A (TTN) | ENSP00000340554.6:p.Arg19491Gln | |
| ENST00000342992.10:c.77387G>A (TTN) | ENSP00000343764.6:p.Arg25796Gln | |
| ENST00000359218.9:c.58271G>A (TTN) | ENSP00000352154.5:p.Arg19424Gln | |
| ENST00000460472.6:c.57896G>A (TTN) | ENSP00000434586.1:p.Arg19299Gln | |
| ENST00000589042.5:c.85091G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28364Gln | |
| ENST00000591111.5:c.80168G>A (TTN) | ENSP00000465570.1:p.Arg26723Gln | |
| ENST00000615779.4:c.80168G>A (TTN) | ENSP00000483597.1:p.Arg26723Gln | |
| NM_001256850.1:c.80168G>A (TTN) | NP_001243779.1:p.Arg26723Gln | |
| NM_001267550.2:c.85091G>A (TTN) MANE Select | NP_001254479.2:p.Arg28364Gln | |
| NM_003319.4:c.57896G>A (TTN) | NP_003310.4:p.Arg19299Gln | |
| NM_133378.4:c.77387G>A (TTN) | NP_596869.4:p.Arg25796Gln | |
| NM_133432.3:c.58271G>A (TTN) | NP_597676.3:p.Arg19424Gln | |
| NM_133437.4:c.58472G>A (TTN) | NP_597681.4:p.Arg19491Gln | |
| NR_038271.1:n.447-10259C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18680C>T (TTN-AS1) | ||
| XM_011511729.1:c.84188G>A (TTN) | XP_011510031.1:p.Arg28063Gln | |
| XM_011511730.1:c.58082G>A (TTN) | XP_011510032.1:p.Arg19361Gln | |
| XM_011511731.1:c.57941G>A (TTN) | XP_011510033.1:p.Arg19314Gln | |
| XM_017004819.1:c.83984G>A (TTN) | XP_016860308.1:p.Arg27995Gln | |
| XM_017004820.1:c.79382G>A (TTN) | XP_016860309.1:p.Arg26461Gln | |
| XM_017004821.1:c.79379G>A (TTN) | XP_016860310.1:p.Arg26460Gln | |
| XM_017004822.1:c.76421G>A (TTN) | XP_016860311.1:p.Arg25474Gln | |
| XM_017004823.1:c.58037G>A (TTN) | XP_016860312.1:p.Arg19346Gln | |
| XM_024453094.1:c.79532G>A (TTN) | XP_024308862.1:p.Arg26511Gln | |
| XM_024453095.1:c.79529G>A (TTN) | XP_024308863.1:p.Arg26510Gln | |
| XM_024453096.1:c.78962G>A (TTN) | XP_024308864.1:p.Arg26321Gln | |
| XM_024453097.1:c.76304G>A (TTN) | XP_024308865.1:p.Arg25435Gln | |
| XM_024453098.1:c.76223G>A (TTN) | XP_024308866.1:p.Arg25408Gln | |
| XM_024453099.1:c.57986G>A (TTN) | XP_024308867.1:p.Arg19329Gln | |
| XM_024453100.1:c.47840G>A (TTN) | XP_024308868.1:p.Arg15947Gln |