Linked Data
ClinVar Variation Id:
202876
dbSNP Id:
rs745981754
ExAC:
2:179433671 T / C
gnomAD v2:
2-179433671-T-C
gnomAD v3:
2-178568944-T-C
gnomAD v4:
2-178568944-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568944T>C , CM000664.2:g.178568944T>C | GRCh38 |
| NC_000002.11:g.179433671T>C , CM000664.1:g.179433671T>C | GRCh37 |
| NC_000002.10:g.179141917T>C | NCBI36 |
| NG_011618.3:g.266859A>G , LRG_391:g.266859A>G | |
| NG_051363.1:g.51118T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69484A>G (TTN) | ENSP00000343764.6:p.Ile23162Val | |
| ENST00000342175.11:c.50569A>G (TTN) | ENSP00000340554.6:p.Ile16857Val | |
| ENST00000359218.10:c.50368A>G (TTN) | ENSP00000352154.5:p.Ile16790Val | |
| ENST00000342175.10:c.50569A>G (TTN) | ENSP00000340554.6:p.Ile16857Val | |
| ENST00000342992.10:c.69484A>G (TTN) | ENSP00000343764.6:p.Ile23162Val | |
| ENST00000359218.9:c.50368A>G (TTN) | ENSP00000352154.5:p.Ile16790Val | |
| ENST00000460472.6:c.49993A>G (TTN) | ENSP00000434586.1:p.Ile16665Val | |
| ENST00000589042.5:c.77188A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile25730Val | |
| ENST00000591111.5:c.72265A>G (TTN) | ENSP00000465570.1:p.Ile24089Val | |
| ENST00000615779.4:c.72265A>G (TTN) | ENSP00000483597.1:p.Ile24089Val | |
| NM_001256850.1:c.72265A>G (TTN) | NP_001243779.1:p.Ile24089Val | |
| NM_001267550.2:c.77188A>G (TTN) MANE Select | NP_001254479.2:p.Ile25730Val | |
| NM_003319.4:c.49993A>G (TTN) | NP_003310.4:p.Ile16665Val | |
| NM_133378.4:c.69484A>G (TTN) | NP_596869.4:p.Ile23162Val | |
| NM_133432.3:c.50368A>G (TTN) | NP_597676.3:p.Ile16790Val | |
| NM_133437.4:c.50569A>G (TTN) | NP_597681.4:p.Ile16857Val | |
| NR_038271.1:n.447-2356T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-13628T>C (TTN-AS1) | ||
| XM_011511729.1:c.76285A>G (TTN) | XP_011510031.1:p.Ile25429Val | |
| XM_011511730.1:c.50179A>G (TTN) | XP_011510032.1:p.Ile16727Val | |
| XM_011511731.1:c.50038A>G (TTN) | XP_011510033.1:p.Ile16680Val | |
| XM_017004819.1:c.76081A>G (TTN) | XP_016860308.1:p.Ile25361Val | |
| XM_017004820.1:c.71479A>G (TTN) | XP_016860309.1:p.Ile23827Val | |
| XM_017004821.1:c.71476A>G (TTN) | XP_016860310.1:p.Ile23826Val | |
| XM_017004822.1:c.68518A>G (TTN) | XP_016860311.1:p.Ile22840Val | |
| XM_017004823.1:c.50134A>G (TTN) | XP_016860312.1:p.Ile16712Val | |
| XM_024453094.1:c.71629A>G (TTN) | XP_024308862.1:p.Ile23877Val | |
| XM_024453095.1:c.71626A>G (TTN) | XP_024308863.1:p.Ile23876Val | |
| XM_024453096.1:c.71059A>G (TTN) | XP_024308864.1:p.Ile23687Val | |
| XM_024453097.1:c.68401A>G (TTN) | XP_024308865.1:p.Ile22801Val | |
| XM_024453098.1:c.68320A>G (TTN) | XP_024308866.1:p.Ile22774Val | |
| XM_024453099.1:c.50083A>G (TTN) | XP_024308867.1:p.Ile16695Val | |
| XM_024453100.1:c.39937A>G (TTN) | XP_024308868.1:p.Ile13313Val |