Linked Data
ClinVar Variation Id:
191937
dbSNP Id:
rs78509062
ExAC:
2:179462655 A / G
gnomAD v2:
2-179462655-A-G
gnomAD v3:
2-178597928-A-G
gnomAD v4:
2-178597928-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597928A>G , CM000664.2:g.178597928A>G | GRCh38 |
| NC_000002.11:g.179462655A>G , CM000664.1:g.179462655A>G | GRCh37 |
| NC_000002.10:g.179170900A>G | NCBI36 |
| NG_011618.3:g.237875T>C , LRG_391:g.237875T>C | |
| NG_051363.1:g.80102A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49538T>C (TTN) | ENSP00000343764.6:p.Ile16513Thr | |
| ENST00000342175.11:c.30623T>C (TTN) | ENSP00000340554.6:p.Ile10208Thr | |
| ENST00000359218.10:c.30422T>C (TTN) | ENSP00000352154.5:p.Ile10141Thr | |
| ENST00000342175.10:c.30623T>C (TTN) | ENSP00000340554.6:p.Ile10208Thr | |
| ENST00000342992.10:c.49538T>C (TTN) | ENSP00000343764.6:p.Ile16513Thr | |
| ENST00000359218.9:c.30422T>C (TTN) | ENSP00000352154.5:p.Ile10141Thr | |
| ENST00000460472.6:c.30047T>C (TTN) | ENSP00000434586.1:p.Ile10016Thr | |
| ENST00000589042.5:c.57242T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile19081Thr | |
| ENST00000591111.5:c.52319T>C (TTN) | ENSP00000465570.1:p.Ile17440Thr | |
| ENST00000615779.4:c.52319T>C (TTN) | ENSP00000483597.1:p.Ile17440Thr | |
| NM_001256850.1:c.52319T>C (TTN) | NP_001243779.1:p.Ile17440Thr | |
| NM_001267550.2:c.57242T>C (TTN) MANE Select | NP_001254479.2:p.Ile19081Thr | |
| NM_003319.4:c.30047T>C (TTN) | NP_003310.4:p.Ile10016Thr | |
| NM_133378.4:c.49538T>C (TTN) | NP_596869.4:p.Ile16513Thr | |
| NM_133432.3:c.30422T>C (TTN) | NP_597676.3:p.Ile10141Thr | |
| NM_133437.4:c.30623T>C (TTN) | NP_597681.4:p.Ile10208Thr | |
| NR_038271.1:n.682+247A>G (TTN-AS1) | ||
| NR_038272.1:n.3450+247A>G (TTN-AS1) | ||
| XM_011511729.1:c.56339T>C (TTN) | XP_011510031.1:p.Ile18780Thr | |
| XM_011511730.1:c.30233T>C (TTN) | XP_011510032.1:p.Ile10078Thr | |
| XM_011511731.1:c.30092T>C (TTN) | XP_011510033.1:p.Ile10031Thr | |
| XM_017004819.1:c.56135T>C (TTN) | XP_016860308.1:p.Ile18712Thr | |
| XM_017004820.1:c.51533T>C (TTN) | XP_016860309.1:p.Ile17178Thr | |
| XM_017004821.1:c.51530T>C (TTN) | XP_016860310.1:p.Ile17177Thr | |
| XM_017004822.1:c.48572T>C (TTN) | XP_016860311.1:p.Ile16191Thr | |
| XM_017004823.1:c.30188T>C (TTN) | XP_016860312.1:p.Ile10063Thr | |
| XM_024453094.1:c.51683T>C (TTN) | XP_024308862.1:p.Ile17228Thr | |
| XM_024453095.1:c.51680T>C (TTN) | XP_024308863.1:p.Ile17227Thr | |
| XM_024453096.1:c.51113T>C (TTN) | XP_024308864.1:p.Ile17038Thr | |
| XM_024453097.1:c.48455T>C (TTN) | XP_024308865.1:p.Ile16152Thr | |
| XM_024453098.1:c.48374T>C (TTN) | XP_024308866.1:p.Ile16125Thr | |
| XM_024453099.1:c.30137T>C (TTN) | XP_024308867.1:p.Ile10046Thr | |
| XM_024453100.1:c.19991T>C (TTN) | XP_024308868.1:p.Ile6664Thr |