Linked Data
ClinVar Variation Id:
332847
dbSNP Id:
rs774556838
ExAC:
2:179477264 A / G
gnomAD v2:
2-179477264-A-G
gnomAD v3:
2-178612537-A-G
gnomAD v4:
2-178612537-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612537A>G , CM000664.2:g.178612537A>G | GRCh38 |
| NC_000002.11:g.179477264A>G , CM000664.1:g.179477264A>G | GRCh37 |
| NC_000002.10:g.179185509A>G | NCBI36 |
| NG_011618.3:g.223266T>C , LRG_391:g.223266T>C | |
| NG_051363.1:g.94711A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42284T>C (TTN) | ENSP00000343764.6:p.Ile14095Thr | |
| ENST00000342175.11:c.23369T>C (TTN) | ENSP00000340554.6:p.Ile7790Thr | |
| ENST00000359218.10:c.23168T>C (TTN) | ENSP00000352154.5:p.Ile7723Thr | |
| ENST00000342175.10:c.23369T>C (TTN) | ENSP00000340554.6:p.Ile7790Thr | |
| ENST00000342992.10:c.42284T>C (TTN) | ENSP00000343764.6:p.Ile14095Thr | |
| ENST00000359218.9:c.23168T>C (TTN) | ENSP00000352154.5:p.Ile7723Thr | |
| ENST00000460472.6:c.22793T>C (TTN) | ENSP00000434586.1:p.Ile7598Thr | |
| ENST00000589042.5:c.49988T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile16663Thr | |
| ENST00000591111.5:c.45065T>C (TTN) | ENSP00000465570.1:p.Ile15022Thr | |
| ENST00000615779.4:c.45065T>C (TTN) | ENSP00000483597.1:p.Ile15022Thr | |
| NM_001256850.1:c.45065T>C (TTN) | NP_001243779.1:p.Ile15022Thr | |
| NM_001267550.2:c.49988T>C (TTN) MANE Select | NP_001254479.2:p.Ile16663Thr | |
| NM_003319.4:c.22793T>C (TTN) | NP_003310.4:p.Ile7598Thr | |
| NM_133378.4:c.42284T>C (TTN) | NP_596869.4:p.Ile14095Thr | |
| NM_133432.3:c.23168T>C (TTN) | NP_597676.3:p.Ile7723Thr | |
| NM_133437.4:c.23369T>C (TTN) | NP_597681.4:p.Ile7790Thr | |
| NR_038271.1:n.783-1498A>G (TTN-AS1) | ||
| XM_011511729.1:c.49085T>C (TTN) | XP_011510031.1:p.Ile16362Thr | |
| XM_011511730.1:c.22979T>C (TTN) | XP_011510032.1:p.Ile7660Thr | |
| XM_011511731.1:c.22838T>C (TTN) | XP_011510033.1:p.Ile7613Thr | |
| XM_017004819.1:c.48881T>C (TTN) | XP_016860308.1:p.Ile16294Thr | |
| XM_017004820.1:c.44279T>C (TTN) | XP_016860309.1:p.Ile14760Thr | |
| XM_017004821.1:c.44276T>C (TTN) | XP_016860310.1:p.Ile14759Thr | |
| XM_017004822.1:c.41318T>C (TTN) | XP_016860311.1:p.Ile13773Thr | |
| XM_017004823.1:c.22934T>C (TTN) | XP_016860312.1:p.Ile7645Thr | |
| XM_024453094.1:c.44429T>C (TTN) | XP_024308862.1:p.Ile14810Thr | |
| XM_024453095.1:c.44426T>C (TTN) | XP_024308863.1:p.Ile14809Thr | |
| XM_024453096.1:c.43859T>C (TTN) | XP_024308864.1:p.Ile14620Thr | |
| XM_024453097.1:c.41201T>C (TTN) | XP_024308865.1:p.Ile13734Thr | |
| XM_024453098.1:c.41120T>C (TTN) | XP_024308866.1:p.Ile13707Thr | |
| XM_024453099.1:c.22883T>C (TTN) | XP_024308867.1:p.Ile7628Thr | |
| XM_024453100.1:c.12737T>C (TTN) | XP_024308868.1:p.Ile4246Thr |