Linked Data
ClinVar Variation Id:
405066
dbSNP Id:
rs560557634
ExAC:
2:179395700 G / T
gnomAD v2:
2-179395700-G-T
gnomAD v3:
2-178530973-G-T
gnomAD v4:
2-178530973-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530973G>T , CM000664.2:g.178530973G>T | GRCh38 |
| NC_000002.11:g.179395700G>T , CM000664.1:g.179395700G>T | GRCh37 |
| NC_000002.10:g.179103946G>T | NCBI36 |
| NG_011618.3:g.304830C>A , LRG_391:g.304830C>A | |
| NG_051363.1:g.13147G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97938C>A (TTN) | ENSP00000343764.6:p.Phe32646Leu | |
| ENST00000342175.11:c.79023C>A (TTN) | ENSP00000340554.6:p.Phe26341Leu | |
| ENST00000359218.10:c.78822C>A (TTN) | ENSP00000352154.5:p.Phe26274Leu | |
| ENST00000342175.10:c.79023C>A (TTN) | ENSP00000340554.6:p.Phe26341Leu | |
| ENST00000342992.10:c.97938C>A (TTN) | ENSP00000343764.6:p.Phe32646Leu | |
| ENST00000359218.9:c.78822C>A (TTN) | ENSP00000352154.5:p.Phe26274Leu | |
| ENST00000460472.6:c.78447C>A (TTN) | ENSP00000434586.1:p.Phe26149Leu | |
| ENST00000589042.5:c.105642C>A (TTN) MANE Select | ENSP00000467141.1:p.Phe35214Leu | |
| ENST00000591111.5:c.100719C>A (TTN) | ENSP00000465570.1:p.Phe33573Leu | |
| ENST00000615779.4:c.100719C>A (TTN) | ENSP00000483597.1:p.Phe33573Leu | |
| NM_001256850.1:c.100719C>A (TTN) | NP_001243779.1:p.Phe33573Leu | |
| NM_001267550.2:c.105642C>A (TTN) MANE Select | NP_001254479.2:p.Phe35214Leu | |
| NM_003319.4:c.78447C>A (TTN) | NP_003310.4:p.Phe26149Leu | |
| NM_133378.4:c.97938C>A (TTN) | NP_596869.4:p.Phe32646Leu | |
| NM_133432.3:c.78822C>A (TTN) | NP_597676.3:p.Phe26274Leu | |
| NM_133437.4:c.79023C>A (TTN) | NP_597681.4:p.Phe26341Leu | |
| NR_038271.1:n.446+7337G>T (TTN-AS1) | ||
| NR_038272.1:n.220-4759G>T (TTN-AS1) | ||
| XM_011511729.1:c.104739C>A (TTN) | XP_011510031.1:p.Phe34913Leu | |
| XM_011511730.1:c.78633C>A (TTN) | XP_011510032.1:p.Phe26211Leu | |
| XM_011511731.1:c.78492C>A (TTN) | XP_011510033.1:p.Phe26164Leu | |
| XM_017004819.1:c.104535C>A (TTN) | XP_016860308.1:p.Phe34845Leu | |
| XM_017004820.1:c.99933C>A (TTN) | XP_016860309.1:p.Phe33311Leu | |
| XM_017004821.1:c.99930C>A (TTN) | XP_016860310.1:p.Phe33310Leu | |
| XM_017004822.1:c.96972C>A (TTN) | XP_016860311.1:p.Phe32324Leu | |
| XM_017004823.1:c.78588C>A (TTN) | XP_016860312.1:p.Phe26196Leu | |
| XM_024453094.1:c.100083C>A (TTN) | XP_024308862.1:p.Phe33361Leu | |
| XM_024453095.1:c.100080C>A (TTN) | XP_024308863.1:p.Phe33360Leu | |
| XM_024453096.1:c.99513C>A (TTN) | XP_024308864.1:p.Phe33171Leu | |
| XM_024453097.1:c.96855C>A (TTN) | XP_024308865.1:p.Phe32285Leu | |
| XM_024453098.1:c.96774C>A (TTN) | XP_024308866.1:p.Phe32258Leu | |
| XM_024453099.1:c.78537C>A (TTN) | XP_024308867.1:p.Phe26179Leu | |
| XM_024453100.1:c.68391C>A (TTN) | XP_024308868.1:p.Phe22797Leu |