Linked Data
ClinVar Variation Id:
223304
dbSNP Id:
rs869312068
gnomAD v4:
2-178534619-C-T
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534619C>T , CM000664.2:g.178534619C>T | GRCh38 |
| NC_000002.11:g.179399346C>T , CM000664.1:g.179399346C>T | GRCh37 |
| NC_000002.10:g.179107592C>T | NCBI36 |
| NG_011618.3:g.301184G>A , LRG_391:g.301184G>A | |
| NG_051363.1:g.16793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94292G>A (TTN) | ENSP00000343764.6:p.Trp31431Ter | |
| ENST00000342175.11:c.75377G>A (TTN) | ENSP00000340554.6:p.Trp25126Ter | |
| ENST00000359218.10:c.75176G>A (TTN) | ENSP00000352154.5:p.Trp25059Ter | |
| ENST00000342175.10:c.75377G>A (TTN) | ENSP00000340554.6:p.Trp25126Ter | |
| ENST00000342992.10:c.94292G>A (TTN) | ENSP00000343764.6:p.Trp31431Ter | |
| ENST00000359218.9:c.75176G>A (TTN) | ENSP00000352154.5:p.Trp25059Ter | |
| ENST00000460472.6:c.74801G>A (TTN) | ENSP00000434586.1:p.Trp24934Ter | |
| ENST00000589042.5:c.101996G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp33999Ter | |
| ENST00000591111.5:c.97073G>A (TTN) | ENSP00000465570.1:p.Trp32358Ter | |
| ENST00000615779.4:c.97073G>A (TTN) | ENSP00000483597.1:p.Trp32358Ter | |
| NM_001256850.1:c.97073G>A (TTN) | NP_001243779.1:p.Trp32358Ter | |
| NM_001267550.2:c.101996G>A (TTN) MANE Select | NP_001254479.2:p.Trp33999Ter | |
| NM_003319.4:c.74801G>A (TTN) | NP_003310.4:p.Trp24934Ter | |
| NM_133378.4:c.94292G>A (TTN) | NP_596869.4:p.Trp31431Ter | |
| NM_133432.3:c.75176G>A (TTN) | NP_597676.3:p.Trp25059Ter | |
| NM_133437.4:c.75377G>A (TTN) | NP_597681.4:p.Trp25126Ter | |
| NR_038271.1:n.446+10983C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1113C>T (TTN-AS1) | ||
| XM_011511729.1:c.101093G>A (TTN) | XP_011510031.1:p.Trp33698Ter | |
| XM_011511730.1:c.74987G>A (TTN) | XP_011510032.1:p.Trp24996Ter | |
| XM_011511731.1:c.74846G>A (TTN) | XP_011510033.1:p.Trp24949Ter | |
| XM_017004819.1:c.100889G>A (TTN) | XP_016860308.1:p.Trp33630Ter | |
| XM_017004820.1:c.96287G>A (TTN) | XP_016860309.1:p.Trp32096Ter | |
| XM_017004821.1:c.96284G>A (TTN) | XP_016860310.1:p.Trp32095Ter | |
| XM_017004822.1:c.93326G>A (TTN) | XP_016860311.1:p.Trp31109Ter | |
| XM_017004823.1:c.74942G>A (TTN) | XP_016860312.1:p.Trp24981Ter | |
| XM_024453094.1:c.96437G>A (TTN) | XP_024308862.1:p.Trp32146Ter | |
| XM_024453095.1:c.96434G>A (TTN) | XP_024308863.1:p.Trp32145Ter | |
| XM_024453096.1:c.95867G>A (TTN) | XP_024308864.1:p.Trp31956Ter | |
| XM_024453097.1:c.93209G>A (TTN) | XP_024308865.1:p.Trp31070Ter | |
| XM_024453098.1:c.93128G>A (TTN) | XP_024308866.1:p.Trp31043Ter | |
| XM_024453099.1:c.74891G>A (TTN) | XP_024308867.1:p.Trp24964Ter | |
| XM_024453100.1:c.64745G>A (TTN) | XP_024308868.1:p.Trp21582Ter |