Linked Data
ClinVar Variation Id:
264232
dbSNP Id:
rs565423253
ExAC:
2:179473985 A / G
gnomAD v2:
2-179473985-A-G
gnomAD v3:
2-178609258-A-G
gnomAD v4:
2-178609258-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609258A>G , CM000664.2:g.178609258A>G | GRCh38 |
| NC_000002.11:g.179473985A>G , CM000664.1:g.179473985A>G | GRCh37 |
| NC_000002.10:g.179182230A>G | NCBI36 |
| NG_011618.3:g.226545T>C , LRG_391:g.226545T>C | |
| NG_051363.1:g.91432A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44348T>C (TTN) | ENSP00000343764.6:p.Val14783Ala | |
| ENST00000342175.11:c.25433T>C (TTN) | ENSP00000340554.6:p.Val8478Ala | |
| ENST00000359218.10:c.25232T>C (TTN) | ENSP00000352154.5:p.Val8411Ala | |
| ENST00000342175.10:c.25433T>C (TTN) | ENSP00000340554.6:p.Val8478Ala | |
| ENST00000342992.10:c.44348T>C (TTN) | ENSP00000343764.6:p.Val14783Ala | |
| ENST00000359218.9:c.25232T>C (TTN) | ENSP00000352154.5:p.Val8411Ala | |
| ENST00000460472.6:c.24857T>C (TTN) | ENSP00000434586.1:p.Val8286Ala | |
| ENST00000589042.5:c.52052T>C (TTN) MANE Select | ENSP00000467141.1:p.Val17351Ala | |
| ENST00000591111.5:c.47129T>C (TTN) | ENSP00000465570.1:p.Val15710Ala | |
| ENST00000615779.4:c.47129T>C (TTN) | ENSP00000483597.1:p.Val15710Ala | |
| NM_001256850.1:c.47129T>C (TTN) | NP_001243779.1:p.Val15710Ala | |
| NM_001267550.2:c.52052T>C (TTN) MANE Select | NP_001254479.2:p.Val17351Ala | |
| NM_003319.4:c.24857T>C (TTN) | NP_003310.4:p.Val8286Ala | |
| NM_133378.4:c.44348T>C (TTN) | NP_596869.4:p.Val14783Ala | |
| NM_133432.3:c.25232T>C (TTN) | NP_597676.3:p.Val8411Ala | |
| NM_133437.4:c.25433T>C (TTN) | NP_597681.4:p.Val8478Ala | |
| NR_038271.1:n.782+992A>G (TTN-AS1) | ||
| XM_011511729.1:c.51149T>C (TTN) | XP_011510031.1:p.Val17050Ala | |
| XM_011511730.1:c.25043T>C (TTN) | XP_011510032.1:p.Val8348Ala | |
| XM_011511731.1:c.24902T>C (TTN) | XP_011510033.1:p.Val8301Ala | |
| XM_017004819.1:c.50945T>C (TTN) | XP_016860308.1:p.Val16982Ala | |
| XM_017004820.1:c.46343T>C (TTN) | XP_016860309.1:p.Val15448Ala | |
| XM_017004821.1:c.46340T>C (TTN) | XP_016860310.1:p.Val15447Ala | |
| XM_017004822.1:c.43382T>C (TTN) | XP_016860311.1:p.Val14461Ala | |
| XM_017004823.1:c.24998T>C (TTN) | XP_016860312.1:p.Val8333Ala | |
| XM_024453094.1:c.46493T>C (TTN) | XP_024308862.1:p.Val15498Ala | |
| XM_024453095.1:c.46490T>C (TTN) | XP_024308863.1:p.Val15497Ala | |
| XM_024453096.1:c.45923T>C (TTN) | XP_024308864.1:p.Val15308Ala | |
| XM_024453097.1:c.43265T>C (TTN) | XP_024308865.1:p.Val14422Ala | |
| XM_024453098.1:c.43184T>C (TTN) | XP_024308866.1:p.Val14395Ala | |
| XM_024453099.1:c.24947T>C (TTN) | XP_024308867.1:p.Val8316Ala | |
| XM_024453100.1:c.14801T>C (TTN) | XP_024308868.1:p.Val4934Ala |