Linked Data
ClinVar Variation Id:
195716
dbSNP Id:
rs375309278
ExAC:
2:179470432 T / C
gnomAD v2:
2-179470432-T-C
gnomAD v3:
2-178605705-T-C
gnomAD v4:
2-178605705-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605705T>C , CM000664.2:g.178605705T>C | GRCh38 |
| NC_000002.11:g.179470432T>C , CM000664.1:g.179470432T>C | GRCh37 |
| NC_000002.10:g.179178677T>C | NCBI36 |
| NG_011618.3:g.230098A>G , LRG_391:g.230098A>G | |
| NG_051363.1:g.87879T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45886A>G (TTN) | ENSP00000343764.6:p.Thr15296Ala | |
| ENST00000342175.11:c.26971A>G (TTN) | ENSP00000340554.6:p.Thr8991Ala | |
| ENST00000359218.10:c.26770A>G (TTN) | ENSP00000352154.5:p.Thr8924Ala | |
| ENST00000342175.10:c.26971A>G (TTN) | ENSP00000340554.6:p.Thr8991Ala | |
| ENST00000342992.10:c.45886A>G (TTN) | ENSP00000343764.6:p.Thr15296Ala | |
| ENST00000359218.9:c.26770A>G (TTN) | ENSP00000352154.5:p.Thr8924Ala | |
| ENST00000460472.6:c.26395A>G (TTN) | ENSP00000434586.1:p.Thr8799Ala | |
| ENST00000589042.5:c.53590A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr17864Ala | |
| ENST00000591111.5:c.48667A>G (TTN) | ENSP00000465570.1:p.Thr16223Ala | |
| ENST00000615779.4:c.48667A>G (TTN) | ENSP00000483597.1:p.Thr16223Ala | |
| NM_001256850.1:c.48667A>G (TTN) | NP_001243779.1:p.Thr16223Ala | |
| NM_001267550.2:c.53590A>G (TTN) MANE Select | NP_001254479.2:p.Thr17864Ala | |
| NM_003319.4:c.26395A>G (TTN) | NP_003310.4:p.Thr8799Ala | |
| NM_133378.4:c.45886A>G (TTN) | NP_596869.4:p.Thr15296Ala | |
| NM_133432.3:c.26770A>G (TTN) | NP_597676.3:p.Thr8924Ala | |
| NM_133437.4:c.26971A>G (TTN) | NP_597681.4:p.Thr8991Ala | |
| NR_038271.1:n.683-2462T>C (TTN-AS1) | ||
| XM_011511729.1:c.52687A>G (TTN) | XP_011510031.1:p.Thr17563Ala | |
| XM_011511730.1:c.26581A>G (TTN) | XP_011510032.1:p.Thr8861Ala | |
| XM_011511731.1:c.26440A>G (TTN) | XP_011510033.1:p.Thr8814Ala | |
| XM_017004819.1:c.52483A>G (TTN) | XP_016860308.1:p.Thr17495Ala | |
| XM_017004820.1:c.47881A>G (TTN) | XP_016860309.1:p.Thr15961Ala | |
| XM_017004821.1:c.47878A>G (TTN) | XP_016860310.1:p.Thr15960Ala | |
| XM_017004822.1:c.44920A>G (TTN) | XP_016860311.1:p.Thr14974Ala | |
| XM_017004823.1:c.26536A>G (TTN) | XP_016860312.1:p.Thr8846Ala | |
| XM_024453094.1:c.48031A>G (TTN) | XP_024308862.1:p.Thr16011Ala | |
| XM_024453095.1:c.48028A>G (TTN) | XP_024308863.1:p.Thr16010Ala | |
| XM_024453096.1:c.47461A>G (TTN) | XP_024308864.1:p.Thr15821Ala | |
| XM_024453097.1:c.44803A>G (TTN) | XP_024308865.1:p.Thr14935Ala | |
| XM_024453098.1:c.44722A>G (TTN) | XP_024308866.1:p.Thr14908Ala | |
| XM_024453099.1:c.26485A>G (TTN) | XP_024308867.1:p.Thr8829Ala | |
| XM_024453100.1:c.16339A>G (TTN) | XP_024308868.1:p.Thr5447Ala |