Linked Data
ClinVar Variation Id:
238834
dbSNP Id:
rs201818722
ExAC:
2:179439704 T / C
gnomAD v2:
2-179439704-T-C
gnomAD v3:
2-178574977-T-C
gnomAD v4:
2-178574977-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574977T>C , CM000664.2:g.178574977T>C | GRCh38 |
| NC_000002.11:g.179439704T>C , CM000664.1:g.179439704T>C | GRCh37 |
| NC_000002.10:g.179147950T>C | NCBI36 |
| NG_011618.3:g.260826A>G , LRG_391:g.260826A>G | |
| NG_051363.1:g.57151T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63451A>G (TTN) | ENSP00000343764.6:p.Ile21151Val | |
| ENST00000342175.11:c.44536A>G (TTN) | ENSP00000340554.6:p.Ile14846Val | |
| ENST00000359218.10:c.44335A>G (TTN) | ENSP00000352154.5:p.Ile14779Val | |
| ENST00000342175.10:c.44536A>G (TTN) | ENSP00000340554.6:p.Ile14846Val | |
| ENST00000342992.10:c.63451A>G (TTN) | ENSP00000343764.6:p.Ile21151Val | |
| ENST00000359218.9:c.44335A>G (TTN) | ENSP00000352154.5:p.Ile14779Val | |
| ENST00000460472.6:c.43960A>G (TTN) | ENSP00000434586.1:p.Ile14654Val | |
| ENST00000589042.5:c.71155A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile23719Val | |
| ENST00000591111.5:c.66232A>G (TTN) | ENSP00000465570.1:p.Ile22078Val | |
| ENST00000615779.4:c.66232A>G (TTN) | ENSP00000483597.1:p.Ile22078Val | |
| NM_001256850.1:c.66232A>G (TTN) | NP_001243779.1:p.Ile22078Val | |
| NM_001267550.2:c.71155A>G (TTN) MANE Select | NP_001254479.2:p.Ile23719Val | |
| NM_003319.4:c.43960A>G (TTN) | NP_003310.4:p.Ile14654Val | |
| NM_133378.4:c.63451A>G (TTN) | NP_596869.4:p.Ile21151Val | |
| NM_133432.3:c.44335A>G (TTN) | NP_597676.3:p.Ile14779Val | |
| NM_133437.4:c.44536A>G (TTN) | NP_597681.4:p.Ile14846Val | |
| NR_038271.1:n.596+3528T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-7595T>C (TTN-AS1) | ||
| XM_011511729.1:c.70252A>G (TTN) | XP_011510031.1:p.Ile23418Val | |
| XM_011511730.1:c.44146A>G (TTN) | XP_011510032.1:p.Ile14716Val | |
| XM_011511731.1:c.44005A>G (TTN) | XP_011510033.1:p.Ile14669Val | |
| XM_017004819.1:c.70048A>G (TTN) | XP_016860308.1:p.Ile23350Val | |
| XM_017004820.1:c.65446A>G (TTN) | XP_016860309.1:p.Ile21816Val | |
| XM_017004821.1:c.65443A>G (TTN) | XP_016860310.1:p.Ile21815Val | |
| XM_017004822.1:c.62485A>G (TTN) | XP_016860311.1:p.Ile20829Val | |
| XM_017004823.1:c.44101A>G (TTN) | XP_016860312.1:p.Ile14701Val | |
| XM_024453094.1:c.65596A>G (TTN) | XP_024308862.1:p.Ile21866Val | |
| XM_024453095.1:c.65593A>G (TTN) | XP_024308863.1:p.Ile21865Val | |
| XM_024453096.1:c.65026A>G (TTN) | XP_024308864.1:p.Ile21676Val | |
| XM_024453097.1:c.62368A>G (TTN) | XP_024308865.1:p.Ile20790Val | |
| XM_024453098.1:c.62287A>G (TTN) | XP_024308866.1:p.Ile20763Val | |
| XM_024453099.1:c.44050A>G (TTN) | XP_024308867.1:p.Ile14684Val | |
| XM_024453100.1:c.33904A>G (TTN) | XP_024308868.1:p.Ile11302Val |