Linked Data
dbSNP Id:
rs779376834
gnomAD v2:
2-179409134-A-G
gnomAD v3:
2-178544407-A-G
gnomAD v4:
2-178544407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544407A>G , CM000664.2:g.178544407A>G | GRCh38 |
| NC_000002.11:g.179409134A>G , CM000664.1:g.179409134A>G | GRCh37 |
| NC_000002.10:g.179117380A>G | NCBI36 |
| NG_011618.3:g.291396T>C , LRG_391:g.291396T>C | |
| NG_051363.1:g.26581A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.88118T>C (TTN) | ENSP00000343764.6:p.Ile29373Thr | |
| ENST00000342175.11:c.69203T>C (TTN) | ENSP00000340554.6:p.Ile23068Thr | |
| ENST00000359218.10:c.69002T>C (TTN) | ENSP00000352154.5:p.Ile23001Thr | |
| ENST00000342175.10:c.69203T>C (TTN) | ENSP00000340554.6:p.Ile23068Thr | |
| ENST00000342992.10:c.88118T>C (TTN) | ENSP00000343764.6:p.Ile29373Thr | |
| ENST00000359218.9:c.69002T>C (TTN) | ENSP00000352154.5:p.Ile23001Thr | |
| ENST00000460472.6:c.68627T>C (TTN) | ENSP00000434586.1:p.Ile22876Thr | |
| ENST00000589042.5:c.95822T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile31941Thr | |
| ENST00000591111.5:c.90899T>C (TTN) | ENSP00000465570.1:p.Ile30300Thr | |
| ENST00000615779.4:c.90899T>C (TTN) | ENSP00000483597.1:p.Ile30300Thr | |
| NM_001256850.1:c.90899T>C (TTN) | NP_001243779.1:p.Ile30300Thr | |
| NM_001267550.2:c.95822T>C (TTN) MANE Select | NP_001254479.2:p.Ile31941Thr | |
| NM_003319.4:c.68627T>C (TTN) | NP_003310.4:p.Ile22876Thr | |
| NM_133378.4:c.88118T>C (TTN) | NP_596869.4:p.Ile29373Thr | |
| NM_133432.3:c.69002T>C (TTN) | NP_597676.3:p.Ile23001Thr | |
| NM_133437.4:c.69203T>C (TTN) | NP_597681.4:p.Ile23068Thr | |
| NR_038271.1:n.446+20771A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+2046A>G (TTN-AS1) | ||
| XM_011511729.1:c.94919T>C (TTN) | XP_011510031.1:p.Ile31640Thr | |
| XM_011511730.1:c.68813T>C (TTN) | XP_011510032.1:p.Ile22938Thr | |
| XM_011511731.1:c.68672T>C (TTN) | XP_011510033.1:p.Ile22891Thr | |
| XM_017004819.1:c.94715T>C (TTN) | XP_016860308.1:p.Ile31572Thr | |
| XM_017004820.1:c.90113T>C (TTN) | XP_016860309.1:p.Ile30038Thr | |
| XM_017004821.1:c.90110T>C (TTN) | XP_016860310.1:p.Ile30037Thr | |
| XM_017004822.1:c.87152T>C (TTN) | XP_016860311.1:p.Ile29051Thr | |
| XM_017004823.1:c.68768T>C (TTN) | XP_016860312.1:p.Ile22923Thr | |
| XM_024453094.1:c.90263T>C (TTN) | XP_024308862.1:p.Ile30088Thr | |
| XM_024453095.1:c.90260T>C (TTN) | XP_024308863.1:p.Ile30087Thr | |
| XM_024453096.1:c.89693T>C (TTN) | XP_024308864.1:p.Ile29898Thr | |
| XM_024453097.1:c.87035T>C (TTN) | XP_024308865.1:p.Ile29012Thr | |
| XM_024453098.1:c.86954T>C (TTN) | XP_024308866.1:p.Ile28985Thr | |
| XM_024453099.1:c.68717T>C (TTN) | XP_024308867.1:p.Ile22906Thr | |
| XM_024453100.1:c.58571T>C (TTN) | XP_024308868.1:p.Ile19524Thr |