Linked Data
ClinVar Variation Id:
467324
dbSNP Id:
rs766141647
ExAC:
2:179457552 T / A
gnomAD v2:
2-179457552-T-A
gnomAD v4:
2-178592825-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592825T>A , CM000664.2:g.178592825T>A | GRCh38 |
| NC_000002.11:g.179457552T>A , CM000664.1:g.179457552T>A | GRCh37 |
| NC_000002.10:g.179165798T>A | NCBI36 |
| NG_011618.3:g.242978A>T , LRG_391:g.242978A>T | |
| NG_051363.1:g.74999T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51590A>T (TTN) | ENSP00000343764.6:p.Glu17197Val | |
| ENST00000342175.11:c.32675A>T (TTN) | ENSP00000340554.6:p.Glu10892Val | |
| ENST00000359218.10:c.32474A>T (TTN) | ENSP00000352154.5:p.Glu10825Val | |
| ENST00000342175.10:c.32675A>T (TTN) | ENSP00000340554.6:p.Glu10892Val | |
| ENST00000342992.10:c.51590A>T (TTN) | ENSP00000343764.6:p.Glu17197Val | |
| ENST00000359218.9:c.32474A>T (TTN) | ENSP00000352154.5:p.Glu10825Val | |
| ENST00000460472.6:c.32099A>T (TTN) | ENSP00000434586.1:p.Glu10700Val | |
| ENST00000589042.5:c.59294A>T (TTN) MANE Select | ENSP00000467141.1:p.Glu19765Val | |
| ENST00000591111.5:c.54371A>T (TTN) | ENSP00000465570.1:p.Glu18124Val | |
| ENST00000615779.4:c.54371A>T (TTN) | ENSP00000483597.1:p.Glu18124Val | |
| NM_001256850.1:c.54371A>T (TTN) | NP_001243779.1:p.Glu18124Val | |
| NM_001267550.2:c.59294A>T (TTN) MANE Select | NP_001254479.2:p.Glu19765Val | |
| NM_003319.4:c.32099A>T (TTN) | NP_003310.4:p.Glu10700Val | |
| NM_133378.4:c.51590A>T (TTN) | NP_596869.4:p.Glu17197Val | |
| NM_133432.3:c.32474A>T (TTN) | NP_597676.3:p.Glu10825Val | |
| NM_133437.4:c.32675A>T (TTN) | NP_597681.4:p.Glu10892Val | |
| NR_038271.1:n.597-4771T>A (TTN-AS1) | ||
| NR_038272.1:n.3364+1511T>A (TTN-AS1) | ||
| XM_011511729.1:c.58391A>T (TTN) | XP_011510031.1:p.Glu19464Val | |
| XM_011511730.1:c.32285A>T (TTN) | XP_011510032.1:p.Glu10762Val | |
| XM_011511731.1:c.32144A>T (TTN) | XP_011510033.1:p.Glu10715Val | |
| XM_017004819.1:c.58187A>T (TTN) | XP_016860308.1:p.Glu19396Val | |
| XM_017004820.1:c.53585A>T (TTN) | XP_016860309.1:p.Glu17862Val | |
| XM_017004821.1:c.53582A>T (TTN) | XP_016860310.1:p.Glu17861Val | |
| XM_017004822.1:c.50624A>T (TTN) | XP_016860311.1:p.Glu16875Val | |
| XM_017004823.1:c.32240A>T (TTN) | XP_016860312.1:p.Glu10747Val | |
| XM_024453094.1:c.53735A>T (TTN) | XP_024308862.1:p.Glu17912Val | |
| XM_024453095.1:c.53732A>T (TTN) | XP_024308863.1:p.Glu17911Val | |
| XM_024453096.1:c.53165A>T (TTN) | XP_024308864.1:p.Glu17722Val | |
| XM_024453097.1:c.50507A>T (TTN) | XP_024308865.1:p.Glu16836Val | |
| XM_024453098.1:c.50426A>T (TTN) | XP_024308866.1:p.Glu16809Val | |
| XM_024453099.1:c.32189A>T (TTN) | XP_024308867.1:p.Glu10730Val | |
| XM_024453100.1:c.22043A>T (TTN) | XP_024308868.1:p.Glu7348Val |