Linked Data
ClinVar Variation Id:
404701
dbSNP Id:
rs568223521
ExAC:
2:179438980 A / G
gnomAD v2:
2-179438980-A-G
gnomAD v3:
2-178574253-A-G
gnomAD v4:
2-178574253-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574253A>G , CM000664.2:g.178574253A>G | GRCh38 |
| NC_000002.11:g.179438980A>G , CM000664.1:g.179438980A>G | GRCh37 |
| NC_000002.10:g.179147226A>G | NCBI36 |
| NG_011618.3:g.261550T>C , LRG_391:g.261550T>C | |
| NG_051363.1:g.56427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64175T>C (TTN) | ENSP00000343764.6:p.Ile21392Thr | |
| ENST00000342175.11:c.45260T>C (TTN) | ENSP00000340554.6:p.Ile15087Thr | |
| ENST00000359218.10:c.45059T>C (TTN) | ENSP00000352154.5:p.Ile15020Thr | |
| ENST00000342175.10:c.45260T>C (TTN) | ENSP00000340554.6:p.Ile15087Thr | |
| ENST00000342992.10:c.64175T>C (TTN) | ENSP00000343764.6:p.Ile21392Thr | |
| ENST00000359218.9:c.45059T>C (TTN) | ENSP00000352154.5:p.Ile15020Thr | |
| ENST00000460472.6:c.44684T>C (TTN) | ENSP00000434586.1:p.Ile14895Thr | |
| ENST00000589042.5:c.71879T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile23960Thr | |
| ENST00000591111.5:c.66956T>C (TTN) | ENSP00000465570.1:p.Ile22319Thr | |
| ENST00000615779.4:c.66956T>C (TTN) | ENSP00000483597.1:p.Ile22319Thr | |
| NM_001256850.1:c.66956T>C (TTN) | NP_001243779.1:p.Ile22319Thr | |
| NM_001267550.2:c.71879T>C (TTN) MANE Select | NP_001254479.2:p.Ile23960Thr | |
| NM_003319.4:c.44684T>C (TTN) | NP_003310.4:p.Ile14895Thr | |
| NM_133378.4:c.64175T>C (TTN) | NP_596869.4:p.Ile21392Thr | |
| NM_133432.3:c.45059T>C (TTN) | NP_597676.3:p.Ile15020Thr | |
| NM_133437.4:c.45260T>C (TTN) | NP_597681.4:p.Ile15087Thr | |
| NR_038271.1:n.596+2804A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8319A>G (TTN-AS1) | ||
| XM_011511729.1:c.70976T>C (TTN) | XP_011510031.1:p.Ile23659Thr | |
| XM_011511730.1:c.44870T>C (TTN) | XP_011510032.1:p.Ile14957Thr | |
| XM_011511731.1:c.44729T>C (TTN) | XP_011510033.1:p.Ile14910Thr | |
| XM_017004819.1:c.70772T>C (TTN) | XP_016860308.1:p.Ile23591Thr | |
| XM_017004820.1:c.66170T>C (TTN) | XP_016860309.1:p.Ile22057Thr | |
| XM_017004821.1:c.66167T>C (TTN) | XP_016860310.1:p.Ile22056Thr | |
| XM_017004822.1:c.63209T>C (TTN) | XP_016860311.1:p.Ile21070Thr | |
| XM_017004823.1:c.44825T>C (TTN) | XP_016860312.1:p.Ile14942Thr | |
| XM_024453094.1:c.66320T>C (TTN) | XP_024308862.1:p.Ile22107Thr | |
| XM_024453095.1:c.66317T>C (TTN) | XP_024308863.1:p.Ile22106Thr | |
| XM_024453096.1:c.65750T>C (TTN) | XP_024308864.1:p.Ile21917Thr | |
| XM_024453097.1:c.63092T>C (TTN) | XP_024308865.1:p.Ile21031Thr | |
| XM_024453098.1:c.63011T>C (TTN) | XP_024308866.1:p.Ile21004Thr | |
| XM_024453099.1:c.44774T>C (TTN) | XP_024308867.1:p.Ile14925Thr | |
| XM_024453100.1:c.34628T>C (TTN) | XP_024308868.1:p.Ile11543Thr |