Linked Data
ClinVar Variation Id:
167766
ClinVar RCV Id:
RCV000259093
RCV001132949
RCV000723773
RCV001132948
RCV001132950
RCV001132946
RCV001132947
RCV003764943
RCV002345491
dbSNP Id:
rs185887755
ExAC:
2:179430305 G / A
gnomAD v2:
2-179430305-G-A
gnomAD v3:
2-178565578-G-A
gnomAD v4:
2-178565578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565578G>A , CM000664.2:g.178565578G>A | GRCh38 |
| NC_000002.11:g.179430305G>A , CM000664.1:g.179430305G>A | GRCh37 |
| NC_000002.10:g.179138551G>A | NCBI36 |
| NG_011618.3:g.270225C>T , LRG_391:g.270225C>T | |
| NG_051363.1:g.47752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72850C>T (TTN) | ENSP00000343764.6:p.Arg24284Cys | |
| ENST00000342175.11:c.53935C>T (TTN) | ENSP00000340554.6:p.Arg17979Cys | |
| ENST00000359218.10:c.53734C>T (TTN) | ENSP00000352154.5:p.Arg17912Cys | |
| ENST00000342175.10:c.53935C>T (TTN) | ENSP00000340554.6:p.Arg17979Cys | |
| ENST00000342992.10:c.72850C>T (TTN) | ENSP00000343764.6:p.Arg24284Cys | |
| ENST00000359218.9:c.53734C>T (TTN) | ENSP00000352154.5:p.Arg17912Cys | |
| ENST00000460472.6:c.53359C>T (TTN) | ENSP00000434586.1:p.Arg17787Cys | |
| ENST00000589042.5:c.80554C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg26852Cys | |
| ENST00000591111.5:c.75631C>T (TTN) | ENSP00000465570.1:p.Arg25211Cys | |
| ENST00000615779.4:c.75631C>T (TTN) | ENSP00000483597.1:p.Arg25211Cys | |
| NM_001256850.1:c.75631C>T (TTN) | NP_001243779.1:p.Arg25211Cys | |
| NM_001267550.2:c.80554C>T (TTN) MANE Select | NP_001254479.2:p.Arg26852Cys | |
| NM_003319.4:c.53359C>T (TTN) | NP_003310.4:p.Arg17787Cys | |
| NM_133378.4:c.72850C>T (TTN) | NP_596869.4:p.Arg24284Cys | |
| NM_133432.3:c.53734C>T (TTN) | NP_597676.3:p.Arg17912Cys | |
| NM_133437.4:c.53935C>T (TTN) | NP_597681.4:p.Arg17979Cys | |
| NR_038271.1:n.447-5722G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-16994G>A (TTN-AS1) | ||
| XM_011511729.1:c.79651C>T (TTN) | XP_011510031.1:p.Arg26551Cys | |
| XM_011511730.1:c.53545C>T (TTN) | XP_011510032.1:p.Arg17849Cys | |
| XM_011511731.1:c.53404C>T (TTN) | XP_011510033.1:p.Arg17802Cys | |
| XM_017004819.1:c.79447C>T (TTN) | XP_016860308.1:p.Arg26483Cys | |
| XM_017004820.1:c.74845C>T (TTN) | XP_016860309.1:p.Arg24949Cys | |
| XM_017004821.1:c.74842C>T (TTN) | XP_016860310.1:p.Arg24948Cys | |
| XM_017004822.1:c.71884C>T (TTN) | XP_016860311.1:p.Arg23962Cys | |
| XM_017004823.1:c.53500C>T (TTN) | XP_016860312.1:p.Arg17834Cys | |
| XM_024453094.1:c.74995C>T (TTN) | XP_024308862.1:p.Arg24999Cys | |
| XM_024453095.1:c.74992C>T (TTN) | XP_024308863.1:p.Arg24998Cys | |
| XM_024453096.1:c.74425C>T (TTN) | XP_024308864.1:p.Arg24809Cys | |
| XM_024453097.1:c.71767C>T (TTN) | XP_024308865.1:p.Arg23923Cys | |
| XM_024453098.1:c.71686C>T (TTN) | XP_024308866.1:p.Arg23896Cys | |
| XM_024453099.1:c.53449C>T (TTN) | XP_024308867.1:p.Arg17817Cys | |
| XM_024453100.1:c.43303C>T (TTN) | XP_024308868.1:p.Arg14435Cys |