Linked Data
ClinVar Variation Id:
332698
dbSNP Id:
rs375002174
ExAC:
2:179399055 G / T
gnomAD v2:
2-179399055-G-T
gnomAD v3:
2-178534328-G-T
gnomAD v4:
2-178534328-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534328G>T , CM000664.2:g.178534328G>T | GRCh38 |
| NC_000002.11:g.179399055G>T , CM000664.1:g.179399055G>T | GRCh37 |
| NC_000002.10:g.179107301G>T | NCBI36 |
| NG_011618.3:g.301475C>A , LRG_391:g.301475C>A | |
| NG_051363.1:g.16502G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94583C>A (TTN) | ENSP00000343764.6:p.Thr31528Asn | |
| ENST00000342175.11:c.75668C>A (TTN) | ENSP00000340554.6:p.Thr25223Asn | |
| ENST00000359218.10:c.75467C>A (TTN) | ENSP00000352154.5:p.Thr25156Asn | |
| ENST00000342175.10:c.75668C>A (TTN) | ENSP00000340554.6:p.Thr25223Asn | |
| ENST00000342992.10:c.94583C>A (TTN) | ENSP00000343764.6:p.Thr31528Asn | |
| ENST00000359218.9:c.75467C>A (TTN) | ENSP00000352154.5:p.Thr25156Asn | |
| ENST00000460472.6:c.75092C>A (TTN) | ENSP00000434586.1:p.Thr25031Asn | |
| ENST00000589042.5:c.102287C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr34096Asn | |
| ENST00000591111.5:c.97364C>A (TTN) | ENSP00000465570.1:p.Thr32455Asn | |
| ENST00000615779.4:c.97364C>A (TTN) | ENSP00000483597.1:p.Thr32455Asn | |
| NM_001256850.1:c.97364C>A (TTN) | NP_001243779.1:p.Thr32455Asn | |
| NM_001267550.2:c.102287C>A (TTN) MANE Select | NP_001254479.2:p.Thr34096Asn | |
| NM_003319.4:c.75092C>A (TTN) | NP_003310.4:p.Thr25031Asn | |
| NM_133378.4:c.94583C>A (TTN) | NP_596869.4:p.Thr31528Asn | |
| NM_133432.3:c.75467C>A (TTN) | NP_597676.3:p.Thr25156Asn | |
| NM_133437.4:c.75668C>A (TTN) | NP_597681.4:p.Thr25223Asn | |
| NR_038271.1:n.446+10692G>T (TTN-AS1) | ||
| NR_038272.1:n.220-1404G>T (TTN-AS1) | ||
| XM_011511729.1:c.101384C>A (TTN) | XP_011510031.1:p.Thr33795Asn | |
| XM_011511730.1:c.75278C>A (TTN) | XP_011510032.1:p.Thr25093Asn | |
| XM_011511731.1:c.75137C>A (TTN) | XP_011510033.1:p.Thr25046Asn | |
| XM_017004819.1:c.101180C>A (TTN) | XP_016860308.1:p.Thr33727Asn | |
| XM_017004820.1:c.96578C>A (TTN) | XP_016860309.1:p.Thr32193Asn | |
| XM_017004821.1:c.96575C>A (TTN) | XP_016860310.1:p.Thr32192Asn | |
| XM_017004822.1:c.93617C>A (TTN) | XP_016860311.1:p.Thr31206Asn | |
| XM_017004823.1:c.75233C>A (TTN) | XP_016860312.1:p.Thr25078Asn | |
| XM_024453094.1:c.96728C>A (TTN) | XP_024308862.1:p.Thr32243Asn | |
| XM_024453095.1:c.96725C>A (TTN) | XP_024308863.1:p.Thr32242Asn | |
| XM_024453096.1:c.96158C>A (TTN) | XP_024308864.1:p.Thr32053Asn | |
| XM_024453097.1:c.93500C>A (TTN) | XP_024308865.1:p.Thr31167Asn | |
| XM_024453098.1:c.93419C>A (TTN) | XP_024308866.1:p.Thr31140Asn | |
| XM_024453099.1:c.75182C>A (TTN) | XP_024308867.1:p.Thr25061Asn | |
| XM_024453100.1:c.65036C>A (TTN) | XP_024308868.1:p.Thr21679Asn |