Linked Data
ClinVar Variation Id:
203051
dbSNP Id:
rs374295768
ExAC:
2:179401890 C / T
gnomAD v2:
2-179401890-C-T
gnomAD v3:
2-178537163-C-T
gnomAD v4:
2-178537163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537163C>T , CM000664.2:g.178537163C>T | GRCh38 |
| NC_000002.11:g.179401890C>T , CM000664.1:g.179401890C>T | GRCh37 |
| NC_000002.10:g.179110136C>T | NCBI36 |
| NG_011618.3:g.298640G>A , LRG_391:g.298640G>A | |
| NG_051363.1:g.19337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92242G>A (TTN) | ENSP00000343764.6:p.Ala30748Thr | |
| ENST00000342175.11:c.73327G>A (TTN) | ENSP00000340554.6:p.Ala24443Thr | |
| ENST00000359218.10:c.73126G>A (TTN) | ENSP00000352154.5:p.Ala24376Thr | |
| ENST00000342175.10:c.73327G>A (TTN) | ENSP00000340554.6:p.Ala24443Thr | |
| ENST00000342992.10:c.92242G>A (TTN) | ENSP00000343764.6:p.Ala30748Thr | |
| ENST00000359218.9:c.73126G>A (TTN) | ENSP00000352154.5:p.Ala24376Thr | |
| ENST00000460472.6:c.72751G>A (TTN) | ENSP00000434586.1:p.Ala24251Thr | |
| ENST00000589042.5:c.99946G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala33316Thr | |
| ENST00000591111.5:c.95023G>A (TTN) | ENSP00000465570.1:p.Ala31675Thr | |
| ENST00000615779.4:c.95023G>A (TTN) | ENSP00000483597.1:p.Ala31675Thr | |
| NM_001256850.1:c.95023G>A (TTN) | NP_001243779.1:p.Ala31675Thr | |
| NM_001267550.2:c.99946G>A (TTN) MANE Select | NP_001254479.2:p.Ala33316Thr | |
| NM_003319.4:c.72751G>A (TTN) | NP_003310.4:p.Ala24251Thr | |
| NM_133378.4:c.92242G>A (TTN) | NP_596869.4:p.Ala30748Thr | |
| NM_133432.3:c.73126G>A (TTN) | NP_597676.3:p.Ala24376Thr | |
| NM_133437.4:c.73327G>A (TTN) | NP_597681.4:p.Ala24443Thr | |
| NR_038271.1:n.446+13527C>T (TTN-AS1) | ||
| NR_038272.1:n.317-198C>T (TTN-AS1) | ||
| XM_011511729.1:c.99043G>A (TTN) | XP_011510031.1:p.Ala33015Thr | |
| XM_011511730.1:c.72937G>A (TTN) | XP_011510032.1:p.Ala24313Thr | |
| XM_011511731.1:c.72796G>A (TTN) | XP_011510033.1:p.Ala24266Thr | |
| XM_017004819.1:c.98839G>A (TTN) | XP_016860308.1:p.Ala32947Thr | |
| XM_017004820.1:c.94237G>A (TTN) | XP_016860309.1:p.Ala31413Thr | |
| XM_017004821.1:c.94234G>A (TTN) | XP_016860310.1:p.Ala31412Thr | |
| XM_017004822.1:c.91276G>A (TTN) | XP_016860311.1:p.Ala30426Thr | |
| XM_017004823.1:c.72892G>A (TTN) | XP_016860312.1:p.Ala24298Thr | |
| XM_024453094.1:c.94387G>A (TTN) | XP_024308862.1:p.Ala31463Thr | |
| XM_024453095.1:c.94384G>A (TTN) | XP_024308863.1:p.Ala31462Thr | |
| XM_024453096.1:c.93817G>A (TTN) | XP_024308864.1:p.Ala31273Thr | |
| XM_024453097.1:c.91159G>A (TTN) | XP_024308865.1:p.Ala30387Thr | |
| XM_024453098.1:c.91078G>A (TTN) | XP_024308866.1:p.Ala30360Thr | |
| XM_024453099.1:c.72841G>A (TTN) | XP_024308867.1:p.Ala24281Thr | |
| XM_024453100.1:c.62695G>A (TTN) | XP_024308868.1:p.Ala20899Thr |