Linked Data
ClinVar Variation Id:
179039
ClinVar RCV Id:
RCV000155823
RCV000292921
RCV000352439
RCV000387336
RCV000643752
RCV000289428
RCV001798515
RCV000344162
RCV004546441
RCV002354376
dbSNP Id:
rs369855092
ExAC:
2:179417638 A / T
gnomAD v2:
2-179417638-A-T
gnomAD v3:
2-178552911-A-T
gnomAD v4:
2-178552911-A-T
PubMed:
PMID:23396983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552911A>T , CM000664.2:g.178552911A>T | GRCh38 |
| NC_000002.11:g.179417638A>T , CM000664.1:g.179417638A>T | GRCh37 |
| NC_000002.10:g.179125884A>T | NCBI36 |
| NG_011618.3:g.282892T>A , LRG_391:g.282892T>A | |
| NG_051363.1:g.35085A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82285T>A (TTN) | ENSP00000343764.6:p.Leu27429Met | |
| ENST00000342175.11:c.63370T>A (TTN) | ENSP00000340554.6:p.Leu21124Met | |
| ENST00000359218.10:c.63169T>A (TTN) | ENSP00000352154.5:p.Leu21057Met | |
| ENST00000342175.10:c.63370T>A (TTN) | ENSP00000340554.6:p.Leu21124Met | |
| ENST00000342992.10:c.82285T>A (TTN) | ENSP00000343764.6:p.Leu27429Met | |
| ENST00000359218.9:c.63169T>A (TTN) | ENSP00000352154.5:p.Leu21057Met | |
| ENST00000460472.6:c.62794T>A (TTN) | ENSP00000434586.1:p.Leu20932Met | |
| ENST00000589042.5:c.89989T>A (TTN) MANE Select | ENSP00000467141.1:p.Leu29997Met | |
| ENST00000591111.5:c.85066T>A (TTN) | ENSP00000465570.1:p.Leu28356Met | |
| ENST00000615779.4:c.85066T>A (TTN) | ENSP00000483597.1:p.Leu28356Met | |
| NM_001256850.1:c.85066T>A (TTN) | NP_001243779.1:p.Leu28356Met | |
| NM_001267550.2:c.89989T>A (TTN) MANE Select | NP_001254479.2:p.Leu29997Met | |
| NM_003319.4:c.62794T>A (TTN) | NP_003310.4:p.Leu20932Met | |
| NM_133378.4:c.82285T>A (TTN) | NP_596869.4:p.Leu27429Met | |
| NM_133432.3:c.63169T>A (TTN) | NP_597676.3:p.Leu21057Met | |
| NM_133437.4:c.63370T>A (TTN) | NP_597681.4:p.Leu21124Met | |
| NR_038271.1:n.447-18389A>T (TTN-AS1) | ||
| NR_038272.1:n.2043+10550A>T (TTN-AS1) | ||
| XM_011511729.1:c.89086T>A (TTN) | XP_011510031.1:p.Leu29696Met | |
| XM_011511730.1:c.62980T>A (TTN) | XP_011510032.1:p.Leu20994Met | |
| XM_011511731.1:c.62839T>A (TTN) | XP_011510033.1:p.Leu20947Met | |
| XM_017004819.1:c.88882T>A (TTN) | XP_016860308.1:p.Leu29628Met | |
| XM_017004820.1:c.84280T>A (TTN) | XP_016860309.1:p.Leu28094Met | |
| XM_017004821.1:c.84277T>A (TTN) | XP_016860310.1:p.Leu28093Met | |
| XM_017004822.1:c.81319T>A (TTN) | XP_016860311.1:p.Leu27107Met | |
| XM_017004823.1:c.62935T>A (TTN) | XP_016860312.1:p.Leu20979Met | |
| XM_024453094.1:c.84430T>A (TTN) | XP_024308862.1:p.Leu28144Met | |
| XM_024453095.1:c.84427T>A (TTN) | XP_024308863.1:p.Leu28143Met | |
| XM_024453096.1:c.83860T>A (TTN) | XP_024308864.1:p.Leu27954Met | |
| XM_024453097.1:c.81202T>A (TTN) | XP_024308865.1:p.Leu27068Met | |
| XM_024453098.1:c.81121T>A (TTN) | XP_024308866.1:p.Leu27041Met | |
| XM_024453099.1:c.62884T>A (TTN) | XP_024308867.1:p.Leu20962Met | |
| XM_024453100.1:c.52738T>A (TTN) | XP_024308868.1:p.Leu17580Met |