Linked Data
ClinVar Variation Id:
228169
dbSNP Id:
rs150930737
ExAC:
2:179410814 C / T
gnomAD v2:
2-179410814-C-T
gnomAD v3:
2-178546087-C-T
gnomAD v4:
2-178546087-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546087C>T , CM000664.2:g.178546087C>T | GRCh38 |
| NC_000002.11:g.179410814C>T , CM000664.1:g.179410814C>T | GRCh37 |
| NC_000002.10:g.179119060C>T | NCBI36 |
| NG_011618.3:g.289716G>A , LRG_391:g.289716G>A | |
| NG_051363.1:g.28261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87445G>A (TTN) | ENSP00000343764.6:p.Val29149Ile | |
| ENST00000342175.11:c.68530G>A (TTN) | ENSP00000340554.6:p.Val22844Ile | |
| ENST00000359218.10:c.68329G>A (TTN) | ENSP00000352154.5:p.Val22777Ile | |
| ENST00000342175.10:c.68530G>A (TTN) | ENSP00000340554.6:p.Val22844Ile | |
| ENST00000342992.10:c.87445G>A (TTN) | ENSP00000343764.6:p.Val29149Ile | |
| ENST00000359218.9:c.68329G>A (TTN) | ENSP00000352154.5:p.Val22777Ile | |
| ENST00000460472.6:c.67954G>A (TTN) | ENSP00000434586.1:p.Val22652Ile | |
| ENST00000589042.5:c.95149G>A (TTN) MANE Select | ENSP00000467141.1:p.Val31717Ile | |
| ENST00000591111.5:c.90226G>A (TTN) | ENSP00000465570.1:p.Val30076Ile | |
| ENST00000615779.4:c.90226G>A (TTN) | ENSP00000483597.1:p.Val30076Ile | |
| NM_001256850.1:c.90226G>A (TTN) | NP_001243779.1:p.Val30076Ile | |
| NM_001267550.2:c.95149G>A (TTN) MANE Select | NP_001254479.2:p.Val31717Ile | |
| NM_003319.4:c.67954G>A (TTN) | NP_003310.4:p.Val22652Ile | |
| NM_133378.4:c.87445G>A (TTN) | NP_596869.4:p.Val29149Ile | |
| NM_133432.3:c.68329G>A (TTN) | NP_597676.3:p.Val22777Ile | |
| NM_133437.4:c.68530G>A (TTN) | NP_597681.4:p.Val22844Ile | |
| NR_038271.1:n.446+22451C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+3726C>T (TTN-AS1) | ||
| XM_011511729.1:c.94246G>A (TTN) | XP_011510031.1:p.Val31416Ile | |
| XM_011511730.1:c.68140G>A (TTN) | XP_011510032.1:p.Val22714Ile | |
| XM_011511731.1:c.67999G>A (TTN) | XP_011510033.1:p.Val22667Ile | |
| XM_017004819.1:c.94042G>A (TTN) | XP_016860308.1:p.Val31348Ile | |
| XM_017004820.1:c.89440G>A (TTN) | XP_016860309.1:p.Val29814Ile | |
| XM_017004821.1:c.89437G>A (TTN) | XP_016860310.1:p.Val29813Ile | |
| XM_017004822.1:c.86479G>A (TTN) | XP_016860311.1:p.Val28827Ile | |
| XM_017004823.1:c.68095G>A (TTN) | XP_016860312.1:p.Val22699Ile | |
| XM_024453094.1:c.89590G>A (TTN) | XP_024308862.1:p.Val29864Ile | |
| XM_024453095.1:c.89587G>A (TTN) | XP_024308863.1:p.Val29863Ile | |
| XM_024453096.1:c.89020G>A (TTN) | XP_024308864.1:p.Val29674Ile | |
| XM_024453097.1:c.86362G>A (TTN) | XP_024308865.1:p.Val28788Ile | |
| XM_024453098.1:c.86281G>A (TTN) | XP_024308866.1:p.Val28761Ile | |
| XM_024453099.1:c.68044G>A (TTN) | XP_024308867.1:p.Val22682Ile | |
| XM_024453100.1:c.57898G>A (TTN) | XP_024308868.1:p.Val19300Ile |