Linked Data
dbSNP Id:
rs773198280
ExAC:
2:179409192 T / C
gnomAD v2:
2-179409192-T-C
gnomAD v3:
2-178544465-T-C
gnomAD v4:
2-178544465-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544465T>C , CM000664.2:g.178544465T>C | GRCh38 |
| NC_000002.11:g.179409192T>C , CM000664.1:g.179409192T>C | GRCh37 |
| NC_000002.10:g.179117438T>C | NCBI36 |
| NG_011618.3:g.291338A>G , LRG_391:g.291338A>G | |
| NG_051363.1:g.26639T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.88060A>G (TTN) | ENSP00000343764.6:p.Thr29354Ala | |
| ENST00000342175.11:c.69145A>G (TTN) | ENSP00000340554.6:p.Thr23049Ala | |
| ENST00000359218.10:c.68944A>G (TTN) | ENSP00000352154.5:p.Thr22982Ala | |
| ENST00000342175.10:c.69145A>G (TTN) | ENSP00000340554.6:p.Thr23049Ala | |
| ENST00000342992.10:c.88060A>G (TTN) | ENSP00000343764.6:p.Thr29354Ala | |
| ENST00000359218.9:c.68944A>G (TTN) | ENSP00000352154.5:p.Thr22982Ala | |
| ENST00000460472.6:c.68569A>G (TTN) | ENSP00000434586.1:p.Thr22857Ala | |
| ENST00000589042.5:c.95764A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr31922Ala | |
| ENST00000591111.5:c.90841A>G (TTN) | ENSP00000465570.1:p.Thr30281Ala | |
| ENST00000615779.4:c.90841A>G (TTN) | ENSP00000483597.1:p.Thr30281Ala | |
| NM_001256850.1:c.90841A>G (TTN) | NP_001243779.1:p.Thr30281Ala | |
| NM_001267550.2:c.95764A>G (TTN) MANE Select | NP_001254479.2:p.Thr31922Ala | |
| NM_003319.4:c.68569A>G (TTN) | NP_003310.4:p.Thr22857Ala | |
| NM_133378.4:c.88060A>G (TTN) | NP_596869.4:p.Thr29354Ala | |
| NM_133432.3:c.68944A>G (TTN) | NP_597676.3:p.Thr22982Ala | |
| NM_133437.4:c.69145A>G (TTN) | NP_597681.4:p.Thr23049Ala | |
| NR_038271.1:n.446+20829T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+2104T>C (TTN-AS1) | ||
| XM_011511729.1:c.94861A>G (TTN) | XP_011510031.1:p.Thr31621Ala | |
| XM_011511730.1:c.68755A>G (TTN) | XP_011510032.1:p.Thr22919Ala | |
| XM_011511731.1:c.68614A>G (TTN) | XP_011510033.1:p.Thr22872Ala | |
| XM_017004819.1:c.94657A>G (TTN) | XP_016860308.1:p.Thr31553Ala | |
| XM_017004820.1:c.90055A>G (TTN) | XP_016860309.1:p.Thr30019Ala | |
| XM_017004821.1:c.90052A>G (TTN) | XP_016860310.1:p.Thr30018Ala | |
| XM_017004822.1:c.87094A>G (TTN) | XP_016860311.1:p.Thr29032Ala | |
| XM_017004823.1:c.68710A>G (TTN) | XP_016860312.1:p.Thr22904Ala | |
| XM_024453094.1:c.90205A>G (TTN) | XP_024308862.1:p.Thr30069Ala | |
| XM_024453095.1:c.90202A>G (TTN) | XP_024308863.1:p.Thr30068Ala | |
| XM_024453096.1:c.89635A>G (TTN) | XP_024308864.1:p.Thr29879Ala | |
| XM_024453097.1:c.86977A>G (TTN) | XP_024308865.1:p.Thr28993Ala | |
| XM_024453098.1:c.86896A>G (TTN) | XP_024308866.1:p.Thr28966Ala | |
| XM_024453099.1:c.68659A>G (TTN) | XP_024308867.1:p.Thr22887Ala | |
| XM_024453100.1:c.58513A>G (TTN) | XP_024308868.1:p.Thr19505Ala |