Linked Data
ClinVar Variation Id:
283664
dbSNP Id:
rs183047238
ExAC:
2:179465612 A / G
gnomAD v2:
2-179465612-A-G
gnomAD v3:
2-178600885-A-G
gnomAD v4:
2-178600885-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178600885A>G , CM000664.2:g.178600885A>G | GRCh38 |
| NC_000002.11:g.179465612A>G , CM000664.1:g.179465612A>G | GRCh37 |
| NC_000002.10:g.179173857A>G | NCBI36 |
| NG_011618.3:g.234918T>C , LRG_391:g.234918T>C | |
| NG_051363.1:g.83059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48315T>C (TTN) | ENSP00000343764.6:p.Thr16105= | |
| ENST00000342175.11:c.29400T>C (TTN) | ENSP00000340554.6:p.Thr9800= | |
| ENST00000359218.10:c.29199T>C (TTN) | ENSP00000352154.5:p.Thr9733= | |
| ENST00000342175.10:c.29400T>C (TTN) | ENSP00000340554.6:p.Thr9800= | |
| ENST00000342992.10:c.48315T>C (TTN) | ENSP00000343764.6:p.Thr16105= | |
| ENST00000359218.9:c.29199T>C (TTN) | ENSP00000352154.5:p.Thr9733= | |
| ENST00000460472.6:c.28824T>C (TTN) | ENSP00000434586.1:p.Thr9608= | |
| ENST00000589042.5:c.56019T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr18673= | |
| ENST00000591111.5:c.51096T>C (TTN) | ENSP00000465570.1:p.Thr17032= | |
| ENST00000615779.4:c.51096T>C (TTN) | ENSP00000483597.1:p.Thr17032= | |
| NM_001256850.1:c.51096T>C (TTN) | NP_001243779.1:p.Thr17032= | |
| NM_001267550.2:c.56019T>C (TTN) MANE Select | NP_001254479.2:p.Thr18673= | |
| NM_003319.4:c.28824T>C (TTN) | NP_003310.4:p.Thr9608= | |
| NM_133378.4:c.48315T>C (TTN) | NP_596869.4:p.Thr16105= | |
| NM_133432.3:c.29199T>C (TTN) | NP_597676.3:p.Thr9733= | |
| NM_133437.4:c.29400T>C (TTN) | NP_597681.4:p.Thr9800= | |
| NR_038271.1:n.682+3204A>G (TTN-AS1) | ||
| NR_038272.1:n.3917+218A>G (TTN-AS1) | ||
| XM_011511729.1:c.55116T>C (TTN) | XP_011510031.1:p.Thr18372= | |
| XM_011511730.1:c.29010T>C (TTN) | XP_011510032.1:p.Thr9670= | |
| XM_011511731.1:c.28869T>C (TTN) | XP_011510033.1:p.Thr9623= | |
| XM_017004819.1:c.54912T>C (TTN) | XP_016860308.1:p.Thr18304= | |
| XM_017004820.1:c.50310T>C (TTN) | XP_016860309.1:p.Thr16770= | |
| XM_017004821.1:c.50307T>C (TTN) | XP_016860310.1:p.Thr16769= | |
| XM_017004822.1:c.47349T>C (TTN) | XP_016860311.1:p.Thr15783= | |
| XM_017004823.1:c.28965T>C (TTN) | XP_016860312.1:p.Thr9655= | |
| XM_024453094.1:c.50460T>C (TTN) | XP_024308862.1:p.Thr16820= | |
| XM_024453095.1:c.50457T>C (TTN) | XP_024308863.1:p.Thr16819= | |
| XM_024453096.1:c.49890T>C (TTN) | XP_024308864.1:p.Thr16630= | |
| XM_024453097.1:c.47232T>C (TTN) | XP_024308865.1:p.Thr15744= | |
| XM_024453098.1:c.47151T>C (TTN) | XP_024308866.1:p.Thr15717= | |
| XM_024453099.1:c.28914T>C (TTN) | XP_024308867.1:p.Thr9638= | |
| XM_024453100.1:c.18768T>C (TTN) | XP_024308868.1:p.Thr6256= |