Linked Data
ClinVar Variation Id:
281698
dbSNP Id:
rs763109620
ExAC:
2:179391932 A / T
gnomAD v2:
2-179391932-A-T
gnomAD v3:
2-178527205-A-T
gnomAD v4:
2-178527205-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527205A>T , CM000664.2:g.178527205A>T | GRCh38 |
| NC_000002.11:g.179391932A>T , CM000664.1:g.179391932A>T | GRCh37 |
| NC_000002.10:g.179100178A>T | NCBI36 |
| NG_011618.3:g.308598T>A , LRG_391:g.308598T>A | |
| NG_051363.1:g.9379A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100079T>A (TTN) | ENSP00000343764.6:p.Val33360Glu | |
| ENST00000342175.11:c.81164T>A (TTN) | ENSP00000340554.6:p.Val27055Glu | |
| ENST00000359218.10:c.80963T>A (TTN) | ENSP00000352154.5:p.Val26988Glu | |
| ENST00000342175.10:c.81164T>A (TTN) | ENSP00000340554.6:p.Val27055Glu | |
| ENST00000342992.10:c.100079T>A (TTN) | ENSP00000343764.6:p.Val33360Glu | |
| ENST00000359218.9:c.80963T>A (TTN) | ENSP00000352154.5:p.Val26988Glu | |
| ENST00000460472.6:c.80588T>A (TTN) | ENSP00000434586.1:p.Val26863Glu | |
| ENST00000589042.5:c.107783T>A (TTN) MANE Select | ENSP00000467141.1:p.Val35928Glu | |
| ENST00000591111.5:c.102860T>A (TTN) | ENSP00000465570.1:p.Val34287Glu | |
| ENST00000615779.4:c.102860T>A (TTN) | ENSP00000483597.1:p.Val34287Glu | |
| NM_001256850.1:c.102860T>A (TTN) | NP_001243779.1:p.Val34287Glu | |
| NM_001267550.2:c.107783T>A (TTN) MANE Select | NP_001254479.2:p.Val35928Glu | |
| NM_003319.4:c.80588T>A (TTN) | NP_003310.4:p.Val26863Glu | |
| NM_133378.4:c.100079T>A (TTN) | NP_596869.4:p.Val33360Glu | |
| NM_133432.3:c.80963T>A (TTN) | NP_597676.3:p.Val26988Glu | |
| NM_133437.4:c.81164T>A (TTN) | NP_597681.4:p.Val27055Glu | |
| NR_038271.1:n.446+3569A>T (TTN-AS1) | ||
| NR_038272.1:n.219+3569A>T (TTN-AS1) | ||
| XM_011511729.1:c.106880T>A (TTN) | XP_011510031.1:p.Val35627Glu | |
| XM_011511730.1:c.80774T>A (TTN) | XP_011510032.1:p.Val26925Glu | |
| XM_011511731.1:c.80633T>A (TTN) | XP_011510033.1:p.Val26878Glu | |
| XM_017004819.1:c.106676T>A (TTN) | XP_016860308.1:p.Val35559Glu | |
| XM_017004820.1:c.102074T>A (TTN) | XP_016860309.1:p.Val34025Glu | |
| XM_017004821.1:c.102071T>A (TTN) | XP_016860310.1:p.Val34024Glu | |
| XM_017004822.1:c.99113T>A (TTN) | XP_016860311.1:p.Val33038Glu | |
| XM_017004823.1:c.80729T>A (TTN) | XP_016860312.1:p.Val26910Glu | |
| XM_024453094.1:c.102224T>A (TTN) | XP_024308862.1:p.Val34075Glu | |
| XM_024453095.1:c.102221T>A (TTN) | XP_024308863.1:p.Val34074Glu | |
| XM_024453096.1:c.101654T>A (TTN) | XP_024308864.1:p.Val33885Glu | |
| XM_024453097.1:c.98996T>A (TTN) | XP_024308865.1:p.Val32999Glu | |
| XM_024453098.1:c.98915T>A (TTN) | XP_024308866.1:p.Val32972Glu | |
| XM_024453099.1:c.80678T>A (TTN) | XP_024308867.1:p.Val26893Glu | |
| XM_024453100.1:c.70532T>A (TTN) | XP_024308868.1:p.Val23511Glu |