Linked Data
ClinVar Variation Id:
332853
dbSNP Id:
rs768530598
ExAC:
2:179482128 A / G
gnomAD v2:
2-179482128-A-G
gnomAD v3:
2-178617401-A-G
gnomAD v4:
2-178617401-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617401A>G , CM000664.2:g.178617401A>G | GRCh38 |
| NC_000002.11:g.179482128A>G , CM000664.1:g.179482128A>G | GRCh37 |
| NC_000002.10:g.179190373A>G | NCBI36 |
| NG_011618.3:g.218402T>C , LRG_391:g.218402T>C | |
| NG_051363.1:g.99575A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39980T>C (TTN) | ENSP00000343764.6:p.Ile13327Thr | |
| ENST00000342175.11:c.21065T>C (TTN) | ENSP00000340554.6:p.Ile7022Thr | |
| ENST00000359218.10:c.20864T>C (TTN) | ENSP00000352154.5:p.Ile6955Thr | |
| ENST00000342175.10:c.21065T>C (TTN) | ENSP00000340554.6:p.Ile7022Thr | |
| ENST00000342992.10:c.39980T>C (TTN) | ENSP00000343764.6:p.Ile13327Thr | |
| ENST00000359218.9:c.20864T>C (TTN) | ENSP00000352154.5:p.Ile6955Thr | |
| ENST00000460472.6:c.20489T>C (TTN) | ENSP00000434586.1:p.Ile6830Thr | |
| ENST00000589042.5:c.47684T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile15895Thr | |
| ENST00000591111.5:c.42761T>C (TTN) | ENSP00000465570.1:p.Ile14254Thr | |
| ENST00000615779.4:c.42761T>C (TTN) | ENSP00000483597.1:p.Ile14254Thr | |
| NM_001256850.1:c.42761T>C (TTN) | NP_001243779.1:p.Ile14254Thr | |
| NM_001267550.2:c.47684T>C (TTN) MANE Select | NP_001254479.2:p.Ile15895Thr | |
| NM_003319.4:c.20489T>C (TTN) | NP_003310.4:p.Ile6830Thr | |
| NM_133378.4:c.39980T>C (TTN) | NP_596869.4:p.Ile13327Thr | |
| NM_133432.3:c.20864T>C (TTN) | NP_597676.3:p.Ile6955Thr | |
| NM_133437.4:c.21065T>C (TTN) | NP_597681.4:p.Ile7022Thr | |
| NR_038271.1:n.1604+2027A>G (TTN-AS1) | ||
| XM_011511729.1:c.46781T>C (TTN) | XP_011510031.1:p.Ile15594Thr | |
| XM_011511730.1:c.20675T>C (TTN) | XP_011510032.1:p.Ile6892Thr | |
| XM_011511731.1:c.20534T>C (TTN) | XP_011510033.1:p.Ile6845Thr | |
| XM_017004819.1:c.46577T>C (TTN) | XP_016860308.1:p.Ile15526Thr | |
| XM_017004820.1:c.41975T>C (TTN) | XP_016860309.1:p.Ile13992Thr | |
| XM_017004821.1:c.41972T>C (TTN) | XP_016860310.1:p.Ile13991Thr | |
| XM_017004822.1:c.39014T>C (TTN) | XP_016860311.1:p.Ile13005Thr | |
| XM_017004823.1:c.20630T>C (TTN) | XP_016860312.1:p.Ile6877Thr | |
| XM_024453094.1:c.42125T>C (TTN) | XP_024308862.1:p.Ile14042Thr | |
| XM_024453095.1:c.42122T>C (TTN) | XP_024308863.1:p.Ile14041Thr | |
| XM_024453096.1:c.41555T>C (TTN) | XP_024308864.1:p.Ile13852Thr | |
| XM_024453097.1:c.38897T>C (TTN) | XP_024308865.1:p.Ile12966Thr | |
| XM_024453098.1:c.38816T>C (TTN) | XP_024308866.1:p.Ile12939Thr | |
| XM_024453099.1:c.20579T>C (TTN) | XP_024308867.1:p.Ile6860Thr | |
| XM_024453100.1:c.10433T>C (TTN) | XP_024308868.1:p.Ile3478Thr |