Linked Data
ClinVar Variation Id:
179600
dbSNP Id:
rs727504980
ExAC:
2:179458374 A / G
gnomAD v2:
2-179458374-A-G
gnomAD v3:
2-178593647-A-G
gnomAD v4:
2-178593647-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593647A>G , CM000664.2:g.178593647A>G | GRCh38 |
| NC_000002.11:g.179458374A>G , CM000664.1:g.179458374A>G | GRCh37 |
| NC_000002.10:g.179166620A>G | NCBI36 |
| NG_011618.3:g.242156T>C , LRG_391:g.242156T>C | |
| NG_051363.1:g.75821A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50949T>C (TTN) | ENSP00000343764.6:p.Ile16983= | |
| ENST00000342175.11:c.32034T>C (TTN) | ENSP00000340554.6:p.Ile10678= | |
| ENST00000359218.10:c.31833T>C (TTN) | ENSP00000352154.5:p.Ile10611= | |
| ENST00000342175.10:c.32034T>C (TTN) | ENSP00000340554.6:p.Ile10678= | |
| ENST00000342992.10:c.50949T>C (TTN) | ENSP00000343764.6:p.Ile16983= | |
| ENST00000359218.9:c.31833T>C (TTN) | ENSP00000352154.5:p.Ile10611= | |
| ENST00000460472.6:c.31458T>C (TTN) | ENSP00000434586.1:p.Ile10486= | |
| ENST00000589042.5:c.58653T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile19551= | |
| ENST00000591111.5:c.53730T>C (TTN) | ENSP00000465570.1:p.Ile17910= | |
| ENST00000615779.4:c.53730T>C (TTN) | ENSP00000483597.1:p.Ile17910= | |
| NM_001256850.1:c.53730T>C (TTN) | NP_001243779.1:p.Ile17910= | |
| NM_001267550.2:c.58653T>C (TTN) MANE Select | NP_001254479.2:p.Ile19551= | |
| NM_003319.4:c.31458T>C (TTN) | NP_003310.4:p.Ile10486= | |
| NM_133378.4:c.50949T>C (TTN) | NP_596869.4:p.Ile16983= | |
| NM_133432.3:c.31833T>C (TTN) | NP_597676.3:p.Ile10611= | |
| NM_133437.4:c.32034T>C (TTN) | NP_597681.4:p.Ile10678= | |
| NR_038271.1:n.597-3949A>G (TTN-AS1) | ||
| NR_038272.1:n.3364+2333A>G (TTN-AS1) | ||
| XM_011511729.1:c.57750T>C (TTN) | XP_011510031.1:p.Ile19250= | |
| XM_011511730.1:c.31644T>C (TTN) | XP_011510032.1:p.Ile10548= | |
| XM_011511731.1:c.31503T>C (TTN) | XP_011510033.1:p.Ile10501= | |
| XM_017004819.1:c.57546T>C (TTN) | XP_016860308.1:p.Ile19182= | |
| XM_017004820.1:c.52944T>C (TTN) | XP_016860309.1:p.Ile17648= | |
| XM_017004821.1:c.52941T>C (TTN) | XP_016860310.1:p.Ile17647= | |
| XM_017004822.1:c.49983T>C (TTN) | XP_016860311.1:p.Ile16661= | |
| XM_017004823.1:c.31599T>C (TTN) | XP_016860312.1:p.Ile10533= | |
| XM_024453094.1:c.53094T>C (TTN) | XP_024308862.1:p.Ile17698= | |
| XM_024453095.1:c.53091T>C (TTN) | XP_024308863.1:p.Ile17697= | |
| XM_024453096.1:c.52524T>C (TTN) | XP_024308864.1:p.Ile17508= | |
| XM_024453097.1:c.49866T>C (TTN) | XP_024308865.1:p.Ile16622= | |
| XM_024453098.1:c.49785T>C (TTN) | XP_024308866.1:p.Ile16595= | |
| XM_024453099.1:c.31548T>C (TTN) | XP_024308867.1:p.Ile10516= | |
| XM_024453100.1:c.21402T>C (TTN) | XP_024308868.1:p.Ile7134= |