Linked Data
ClinVar Variation Id:
229466
dbSNP Id:
rs375000725
ExAC:
2:179463987 T / G
gnomAD v2:
2-179463987-T-G
gnomAD v3:
2-178599260-T-G
gnomAD v4:
2-178599260-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599260T>G , CM000664.2:g.178599260T>G | GRCh38 |
| NC_000002.11:g.179463987T>G , CM000664.1:g.179463987T>G | GRCh37 |
| NC_000002.10:g.179172232T>G | NCBI36 |
| NG_011618.3:g.236543A>C , LRG_391:g.236543A>C | |
| NG_051363.1:g.81434T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48829A>C (TTN) | ENSP00000343764.6:p.Thr16277Pro | |
| ENST00000342175.11:c.29914A>C (TTN) | ENSP00000340554.6:p.Thr9972Pro | |
| ENST00000359218.10:c.29713A>C (TTN) | ENSP00000352154.5:p.Thr9905Pro | |
| ENST00000342175.10:c.29914A>C (TTN) | ENSP00000340554.6:p.Thr9972Pro | |
| ENST00000342992.10:c.48829A>C (TTN) | ENSP00000343764.6:p.Thr16277Pro | |
| ENST00000359218.9:c.29713A>C (TTN) | ENSP00000352154.5:p.Thr9905Pro | |
| ENST00000460472.6:c.29338A>C (TTN) | ENSP00000434586.1:p.Thr9780Pro | |
| ENST00000589042.5:c.56533A>C (TTN) MANE Select | ENSP00000467141.1:p.Thr18845Pro | |
| ENST00000591111.5:c.51610A>C (TTN) | ENSP00000465570.1:p.Thr17204Pro | |
| ENST00000615779.4:c.51610A>C (TTN) | ENSP00000483597.1:p.Thr17204Pro | |
| NM_001256850.1:c.51610A>C (TTN) | NP_001243779.1:p.Thr17204Pro | |
| NM_001267550.2:c.56533A>C (TTN) MANE Select | NP_001254479.2:p.Thr18845Pro | |
| NM_003319.4:c.29338A>C (TTN) | NP_003310.4:p.Thr9780Pro | |
| NM_133378.4:c.48829A>C (TTN) | NP_596869.4:p.Thr16277Pro | |
| NM_133432.3:c.29713A>C (TTN) | NP_597676.3:p.Thr9905Pro | |
| NM_133437.4:c.29914A>C (TTN) | NP_597681.4:p.Thr9972Pro | |
| NR_038271.1:n.682+1579T>G (TTN-AS1) | ||
| NR_038272.1:n.3569-334T>G (TTN-AS1) | ||
| XM_011511729.1:c.55630A>C (TTN) | XP_011510031.1:p.Thr18544Pro | |
| XM_011511730.1:c.29524A>C (TTN) | XP_011510032.1:p.Thr9842Pro | |
| XM_011511731.1:c.29383A>C (TTN) | XP_011510033.1:p.Thr9795Pro | |
| XM_017004819.1:c.55426A>C (TTN) | XP_016860308.1:p.Thr18476Pro | |
| XM_017004820.1:c.50824A>C (TTN) | XP_016860309.1:p.Thr16942Pro | |
| XM_017004821.1:c.50821A>C (TTN) | XP_016860310.1:p.Thr16941Pro | |
| XM_017004822.1:c.47863A>C (TTN) | XP_016860311.1:p.Thr15955Pro | |
| XM_017004823.1:c.29479A>C (TTN) | XP_016860312.1:p.Thr9827Pro | |
| XM_024453094.1:c.50974A>C (TTN) | XP_024308862.1:p.Thr16992Pro | |
| XM_024453095.1:c.50971A>C (TTN) | XP_024308863.1:p.Thr16991Pro | |
| XM_024453096.1:c.50404A>C (TTN) | XP_024308864.1:p.Thr16802Pro | |
| XM_024453097.1:c.47746A>C (TTN) | XP_024308865.1:p.Thr15916Pro | |
| XM_024453098.1:c.47665A>C (TTN) | XP_024308866.1:p.Thr15889Pro | |
| XM_024453099.1:c.29428A>C (TTN) | XP_024308867.1:p.Thr9810Pro | |
| XM_024453100.1:c.19282A>C (TTN) | XP_024308868.1:p.Thr6428Pro |