Linked Data
ClinVar Variation Id:
202657
dbSNP Id:
rs764388462
ExAC:
2:179482562 A / G
gnomAD v2:
2-179482562-A-G
gnomAD v3:
2-178617835-A-G
gnomAD v4:
2-178617835-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617835A>G , CM000664.2:g.178617835A>G | GRCh38 |
| NC_000002.11:g.179482562A>G , CM000664.1:g.179482562A>G | GRCh37 |
| NC_000002.10:g.179190807A>G | NCBI36 |
| NG_011618.3:g.217968T>C , LRG_391:g.217968T>C | |
| NG_051363.1:g.100009A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39812T>C (TTN) | ENSP00000343764.6:p.Ile13271Thr | |
| ENST00000342175.11:c.20897T>C (TTN) | ENSP00000340554.6:p.Ile6966Thr | |
| ENST00000359218.10:c.20696T>C (TTN) | ENSP00000352154.5:p.Ile6899Thr | |
| ENST00000342175.10:c.20897T>C (TTN) | ENSP00000340554.6:p.Ile6966Thr | |
| ENST00000342992.10:c.39812T>C (TTN) | ENSP00000343764.6:p.Ile13271Thr | |
| ENST00000359218.9:c.20696T>C (TTN) | ENSP00000352154.5:p.Ile6899Thr | |
| ENST00000460472.6:c.20321T>C (TTN) | ENSP00000434586.1:p.Ile6774Thr | |
| ENST00000589042.5:c.47516T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile15839Thr | |
| ENST00000591111.5:c.42593T>C (TTN) | ENSP00000465570.1:p.Ile14198Thr | |
| ENST00000615779.4:c.42593T>C (TTN) | ENSP00000483597.1:p.Ile14198Thr | |
| NM_001256850.1:c.42593T>C (TTN) | NP_001243779.1:p.Ile14198Thr | |
| NM_001267550.2:c.47516T>C (TTN) MANE Select | NP_001254479.2:p.Ile15839Thr | |
| NM_003319.4:c.20321T>C (TTN) | NP_003310.4:p.Ile6774Thr | |
| NM_133378.4:c.39812T>C (TTN) | NP_596869.4:p.Ile13271Thr | |
| NM_133432.3:c.20696T>C (TTN) | NP_597676.3:p.Ile6899Thr | |
| NM_133437.4:c.20897T>C (TTN) | NP_597681.4:p.Ile6966Thr | |
| NR_038271.1:n.1605-1918A>G (TTN-AS1) | ||
| XM_011511729.1:c.46613T>C (TTN) | XP_011510031.1:p.Ile15538Thr | |
| XM_011511730.1:c.20507T>C (TTN) | XP_011510032.1:p.Ile6836Thr | |
| XM_011511731.1:c.20366T>C (TTN) | XP_011510033.1:p.Ile6789Thr | |
| XM_017004819.1:c.46409T>C (TTN) | XP_016860308.1:p.Ile15470Thr | |
| XM_017004820.1:c.41807T>C (TTN) | XP_016860309.1:p.Ile13936Thr | |
| XM_017004821.1:c.41804T>C (TTN) | XP_016860310.1:p.Ile13935Thr | |
| XM_017004822.1:c.38846T>C (TTN) | XP_016860311.1:p.Ile12949Thr | |
| XM_017004823.1:c.20462T>C (TTN) | XP_016860312.1:p.Ile6821Thr | |
| XM_024453094.1:c.41957T>C (TTN) | XP_024308862.1:p.Ile13986Thr | |
| XM_024453095.1:c.41954T>C (TTN) | XP_024308863.1:p.Ile13985Thr | |
| XM_024453096.1:c.41387T>C (TTN) | XP_024308864.1:p.Ile13796Thr | |
| XM_024453097.1:c.38729T>C (TTN) | XP_024308865.1:p.Ile12910Thr | |
| XM_024453098.1:c.38648T>C (TTN) | XP_024308866.1:p.Ile12883Thr | |
| XM_024453099.1:c.20411T>C (TTN) | XP_024308867.1:p.Ile6804Thr | |
| XM_024453100.1:c.10265T>C (TTN) | XP_024308868.1:p.Ile3422Thr |