Linked Data
ClinVar Variation Id:
165722
ClinVar RCV Id:
RCV000152186
RCV000618452
RCV001129398
RCV001129395
RCV001129396
RCV003480065
RCV001129397
RCV001129399
dbSNP Id:
rs727503549
ExAC:
2:179412308 G / A
gnomAD v2:
2-179412308-G-A
gnomAD v3:
2-178547581-G-A
gnomAD v4:
2-178547581-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547581G>A , CM000664.2:g.178547581G>A | GRCh38 |
| NC_000002.11:g.179412308G>A , CM000664.1:g.179412308G>A | GRCh37 |
| NC_000002.10:g.179120554G>A | NCBI36 |
| NG_011618.3:g.288222C>T , LRG_391:g.288222C>T | |
| NG_051363.1:g.29755G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86341C>T (TTN) | ENSP00000343764.6:p.Arg28781Cys | |
| ENST00000342175.11:c.67426C>T (TTN) | ENSP00000340554.6:p.Arg22476Cys | |
| ENST00000359218.10:c.67225C>T (TTN) | ENSP00000352154.5:p.Arg22409Cys | |
| ENST00000342175.10:c.67426C>T (TTN) | ENSP00000340554.6:p.Arg22476Cys | |
| ENST00000342992.10:c.86341C>T (TTN) | ENSP00000343764.6:p.Arg28781Cys | |
| ENST00000359218.9:c.67225C>T (TTN) | ENSP00000352154.5:p.Arg22409Cys | |
| ENST00000460472.6:c.66850C>T (TTN) | ENSP00000434586.1:p.Arg22284Cys | |
| ENST00000589042.5:c.94045C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31349Cys | |
| ENST00000591111.5:c.89122C>T (TTN) | ENSP00000465570.1:p.Arg29708Cys | |
| ENST00000615779.4:c.89122C>T (TTN) | ENSP00000483597.1:p.Arg29708Cys | |
| NM_001256850.1:c.89122C>T (TTN) | NP_001243779.1:p.Arg29708Cys | |
| NM_001267550.2:c.94045C>T (TTN) MANE Select | NP_001254479.2:p.Arg31349Cys | |
| NM_003319.4:c.66850C>T (TTN) | NP_003310.4:p.Arg22284Cys | |
| NM_133378.4:c.86341C>T (TTN) | NP_596869.4:p.Arg28781Cys | |
| NM_133432.3:c.67225C>T (TTN) | NP_597676.3:p.Arg22409Cys | |
| NM_133437.4:c.67426C>T (TTN) | NP_597681.4:p.Arg22476Cys | |
| NR_038271.1:n.447-23719G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+5220G>A (TTN-AS1) | ||
| XM_011511729.1:c.93142C>T (TTN) | XP_011510031.1:p.Arg31048Cys | |
| XM_011511730.1:c.67036C>T (TTN) | XP_011510032.1:p.Arg22346Cys | |
| XM_011511731.1:c.66895C>T (TTN) | XP_011510033.1:p.Arg22299Cys | |
| XM_017004819.1:c.92938C>T (TTN) | XP_016860308.1:p.Arg30980Cys | |
| XM_017004820.1:c.88336C>T (TTN) | XP_016860309.1:p.Arg29446Cys | |
| XM_017004821.1:c.88333C>T (TTN) | XP_016860310.1:p.Arg29445Cys | |
| XM_017004822.1:c.85375C>T (TTN) | XP_016860311.1:p.Arg28459Cys | |
| XM_017004823.1:c.66991C>T (TTN) | XP_016860312.1:p.Arg22331Cys | |
| XM_024453094.1:c.88486C>T (TTN) | XP_024308862.1:p.Arg29496Cys | |
| XM_024453095.1:c.88483C>T (TTN) | XP_024308863.1:p.Arg29495Cys | |
| XM_024453096.1:c.87916C>T (TTN) | XP_024308864.1:p.Arg29306Cys | |
| XM_024453097.1:c.85258C>T (TTN) | XP_024308865.1:p.Arg28420Cys | |
| XM_024453098.1:c.85177C>T (TTN) | XP_024308866.1:p.Arg28393Cys | |
| XM_024453099.1:c.66940C>T (TTN) | XP_024308867.1:p.Arg22314Cys | |
| XM_024453100.1:c.56794C>T (TTN) | XP_024308868.1:p.Arg18932Cys |