Linked Data
ClinVar Variation Id:
202827
dbSNP Id:
rs369526268
ExAC:
2:179440289 T / C
gnomAD v2:
2-179440289-T-C
gnomAD v3:
2-178575562-T-C
gnomAD v4:
2-178575562-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575562T>C , CM000664.2:g.178575562T>C | GRCh38 |
| NC_000002.11:g.179440289T>C , CM000664.1:g.179440289T>C | GRCh37 |
| NC_000002.10:g.179148535T>C | NCBI36 |
| NG_011618.3:g.260241A>G , LRG_391:g.260241A>G | |
| NG_051363.1:g.57736T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62866A>G (TTN) | ENSP00000343764.6:p.Thr20956Ala | |
| ENST00000342175.11:c.43951A>G (TTN) | ENSP00000340554.6:p.Thr14651Ala | |
| ENST00000359218.10:c.43750A>G (TTN) | ENSP00000352154.5:p.Thr14584Ala | |
| ENST00000342175.10:c.43951A>G (TTN) | ENSP00000340554.6:p.Thr14651Ala | |
| ENST00000342992.10:c.62866A>G (TTN) | ENSP00000343764.6:p.Thr20956Ala | |
| ENST00000359218.9:c.43750A>G (TTN) | ENSP00000352154.5:p.Thr14584Ala | |
| ENST00000460472.6:c.43375A>G (TTN) | ENSP00000434586.1:p.Thr14459Ala | |
| ENST00000589042.5:c.70570A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr23524Ala | |
| ENST00000591111.5:c.65647A>G (TTN) | ENSP00000465570.1:p.Thr21883Ala | |
| ENST00000615779.4:c.65647A>G (TTN) | ENSP00000483597.1:p.Thr21883Ala | |
| NM_001256850.1:c.65647A>G (TTN) | NP_001243779.1:p.Thr21883Ala | |
| NM_001267550.2:c.70570A>G (TTN) MANE Select | NP_001254479.2:p.Thr23524Ala | |
| NM_003319.4:c.43375A>G (TTN) | NP_003310.4:p.Thr14459Ala | |
| NM_133378.4:c.62866A>G (TTN) | NP_596869.4:p.Thr20956Ala | |
| NM_133432.3:c.43750A>G (TTN) | NP_597676.3:p.Thr14584Ala | |
| NM_133437.4:c.43951A>G (TTN) | NP_597681.4:p.Thr14651Ala | |
| NR_038271.1:n.596+4113T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-7010T>C (TTN-AS1) | ||
| XM_011511729.1:c.69667A>G (TTN) | XP_011510031.1:p.Thr23223Ala | |
| XM_011511730.1:c.43561A>G (TTN) | XP_011510032.1:p.Thr14521Ala | |
| XM_011511731.1:c.43420A>G (TTN) | XP_011510033.1:p.Thr14474Ala | |
| XM_017004819.1:c.69463A>G (TTN) | XP_016860308.1:p.Thr23155Ala | |
| XM_017004820.1:c.64861A>G (TTN) | XP_016860309.1:p.Thr21621Ala | |
| XM_017004821.1:c.64858A>G (TTN) | XP_016860310.1:p.Thr21620Ala | |
| XM_017004822.1:c.61900A>G (TTN) | XP_016860311.1:p.Thr20634Ala | |
| XM_017004823.1:c.43516A>G (TTN) | XP_016860312.1:p.Thr14506Ala | |
| XM_024453094.1:c.65011A>G (TTN) | XP_024308862.1:p.Thr21671Ala | |
| XM_024453095.1:c.65008A>G (TTN) | XP_024308863.1:p.Thr21670Ala | |
| XM_024453096.1:c.64441A>G (TTN) | XP_024308864.1:p.Thr21481Ala | |
| XM_024453097.1:c.61783A>G (TTN) | XP_024308865.1:p.Thr20595Ala | |
| XM_024453098.1:c.61702A>G (TTN) | XP_024308866.1:p.Thr20568Ala | |
| XM_024453099.1:c.43465A>G (TTN) | XP_024308867.1:p.Thr14489Ala | |
| XM_024453100.1:c.33319A>G (TTN) | XP_024308868.1:p.Thr11107Ala |