Linked Data
ClinVar Variation Id:
223279
dbSNP Id:
rs869312048
gnomAD v3:
2-178615418-C-T
gnomAD v4:
2-178615418-C-T
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615418C>T , CM000664.2:g.178615418C>T | GRCh38 |
| NC_000002.11:g.179480145C>T , CM000664.1:g.179480145C>T | GRCh37 |
| NC_000002.10:g.179188390C>T | NCBI36 |
| NG_011618.3:g.220385G>A , LRG_391:g.220385G>A | |
| NG_051363.1:g.97592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40823G>A (TTN) | ENSP00000343764.6:p.Trp13608Ter | |
| ENST00000342175.11:c.21908G>A (TTN) | ENSP00000340554.6:p.Trp7303Ter | |
| ENST00000359218.10:c.21707G>A (TTN) | ENSP00000352154.5:p.Trp7236Ter | |
| ENST00000342175.10:c.21908G>A (TTN) | ENSP00000340554.6:p.Trp7303Ter | |
| ENST00000342992.10:c.40823G>A (TTN) | ENSP00000343764.6:p.Trp13608Ter | |
| ENST00000359218.9:c.21707G>A (TTN) | ENSP00000352154.5:p.Trp7236Ter | |
| ENST00000460472.6:c.21332G>A (TTN) | ENSP00000434586.1:p.Trp7111Ter | |
| ENST00000589042.5:c.48527G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp16176Ter | |
| ENST00000591111.5:c.43604G>A (TTN) | ENSP00000465570.1:p.Trp14535Ter | |
| ENST00000615779.4:c.43604G>A (TTN) | ENSP00000483597.1:p.Trp14535Ter | |
| NM_001256850.1:c.43604G>A (TTN) | NP_001243779.1:p.Trp14535Ter | |
| NM_001267550.2:c.48527G>A (TTN) MANE Select | NP_001254479.2:p.Trp16176Ter | |
| NM_003319.4:c.21332G>A (TTN) | NP_003310.4:p.Trp7111Ter | |
| NM_133378.4:c.40823G>A (TTN) | NP_596869.4:p.Trp13608Ter | |
| NM_133432.3:c.21707G>A (TTN) | NP_597676.3:p.Trp7236Ter | |
| NM_133437.4:c.21908G>A (TTN) | NP_597681.4:p.Trp7303Ter | |
| NR_038271.1:n.1604+44C>T (TTN-AS1) | ||
| XM_011511729.1:c.47624G>A (TTN) | XP_011510031.1:p.Trp15875Ter | |
| XM_011511730.1:c.21518G>A (TTN) | XP_011510032.1:p.Trp7173Ter | |
| XM_011511731.1:c.21377G>A (TTN) | XP_011510033.1:p.Trp7126Ter | |
| XM_017004819.1:c.47420G>A (TTN) | XP_016860308.1:p.Trp15807Ter | |
| XM_017004820.1:c.42818G>A (TTN) | XP_016860309.1:p.Trp14273Ter | |
| XM_017004821.1:c.42815G>A (TTN) | XP_016860310.1:p.Trp14272Ter | |
| XM_017004822.1:c.39857G>A (TTN) | XP_016860311.1:p.Trp13286Ter | |
| XM_017004823.1:c.21473G>A (TTN) | XP_016860312.1:p.Trp7158Ter | |
| XM_024453094.1:c.42968G>A (TTN) | XP_024308862.1:p.Trp14323Ter | |
| XM_024453095.1:c.42965G>A (TTN) | XP_024308863.1:p.Trp14322Ter | |
| XM_024453096.1:c.42398G>A (TTN) | XP_024308864.1:p.Trp14133Ter | |
| XM_024453097.1:c.39740G>A (TTN) | XP_024308865.1:p.Trp13247Ter | |
| XM_024453098.1:c.39659G>A (TTN) | XP_024308866.1:p.Trp13220Ter | |
| XM_024453099.1:c.21422G>A (TTN) | XP_024308867.1:p.Trp7141Ter | |
| XM_024453100.1:c.11276G>A (TTN) | XP_024308868.1:p.Trp3759Ter |