Linked Data
ClinVar Variation Id:
238827
dbSNP Id:
rs183276016
ExAC:
2:179446666 C / T
gnomAD v2:
2-179446666-C-T
gnomAD v3:
2-178581939-C-T
gnomAD v4:
2-178581939-C-T
PubMed:
PMID:28166282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581939C>T , CM000664.2:g.178581939C>T | GRCh38 |
| NC_000002.11:g.179446666C>T , CM000664.1:g.179446666C>T | GRCh37 |
| NC_000002.10:g.179154912C>T | NCBI36 |
| NG_011618.3:g.253864G>A , LRG_391:g.253864G>A | |
| NG_051363.1:g.64113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58726G>A (TTN) | ENSP00000343764.6:p.Ala19576Thr | |
| ENST00000342175.11:c.39811G>A (TTN) | ENSP00000340554.6:p.Ala13271Thr | |
| ENST00000359218.10:c.39610G>A (TTN) | ENSP00000352154.5:p.Ala13204Thr | |
| ENST00000342175.10:c.39811G>A (TTN) | ENSP00000340554.6:p.Ala13271Thr | |
| ENST00000342992.10:c.58726G>A (TTN) | ENSP00000343764.6:p.Ala19576Thr | |
| ENST00000359218.9:c.39610G>A (TTN) | ENSP00000352154.5:p.Ala13204Thr | |
| ENST00000460472.6:c.39235G>A (TTN) | ENSP00000434586.1:p.Ala13079Thr | |
| ENST00000589042.5:c.66430G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala22144Thr | |
| ENST00000591111.5:c.61507G>A (TTN) | ENSP00000465570.1:p.Ala20503Thr | |
| ENST00000615779.4:c.61507G>A (TTN) | ENSP00000483597.1:p.Ala20503Thr | |
| NM_001256850.1:c.61507G>A (TTN) | NP_001243779.1:p.Ala20503Thr | |
| NM_001267550.2:c.66430G>A (TTN) MANE Select | NP_001254479.2:p.Ala22144Thr | |
| NM_003319.4:c.39235G>A (TTN) | NP_003310.4:p.Ala13079Thr | |
| NM_133378.4:c.58726G>A (TTN) | NP_596869.4:p.Ala19576Thr | |
| NM_133432.3:c.39610G>A (TTN) | NP_597676.3:p.Ala13204Thr | |
| NM_133437.4:c.39811G>A (TTN) | NP_597681.4:p.Ala13271Thr | |
| NR_038271.1:n.596+10490C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-633C>T (TTN-AS1) | ||
| XM_011511729.1:c.65527G>A (TTN) | XP_011510031.1:p.Ala21843Thr | |
| XM_011511730.1:c.39421G>A (TTN) | XP_011510032.1:p.Ala13141Thr | |
| XM_011511731.1:c.39280G>A (TTN) | XP_011510033.1:p.Ala13094Thr | |
| XM_017004819.1:c.65323G>A (TTN) | XP_016860308.1:p.Ala21775Thr | |
| XM_017004820.1:c.60721G>A (TTN) | XP_016860309.1:p.Ala20241Thr | |
| XM_017004821.1:c.60718G>A (TTN) | XP_016860310.1:p.Ala20240Thr | |
| XM_017004822.1:c.57760G>A (TTN) | XP_016860311.1:p.Ala19254Thr | |
| XM_017004823.1:c.39376G>A (TTN) | XP_016860312.1:p.Ala13126Thr | |
| XM_024453094.1:c.60871G>A (TTN) | XP_024308862.1:p.Ala20291Thr | |
| XM_024453095.1:c.60868G>A (TTN) | XP_024308863.1:p.Ala20290Thr | |
| XM_024453096.1:c.60301G>A (TTN) | XP_024308864.1:p.Ala20101Thr | |
| XM_024453097.1:c.57643G>A (TTN) | XP_024308865.1:p.Ala19215Thr | |
| XM_024453098.1:c.57562G>A (TTN) | XP_024308866.1:p.Ala19188Thr | |
| XM_024453099.1:c.39325G>A (TTN) | XP_024308867.1:p.Ala13109Thr | |
| XM_024453100.1:c.29179G>A (TTN) | XP_024308868.1:p.Ala9727Thr |