Linked Data
ClinVar Variation Id:
202384
dbSNP Id:
rs761807131
ExAC:
2:179474816 C / T
gnomAD v2:
2-179474816-C-T
gnomAD v3:
2-178610089-C-T
gnomAD v4:
2-178610089-C-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178610089C>T , CM000664.2:g.178610089C>T | GRCh38 |
| NC_000002.11:g.179474816C>T , CM000664.1:g.179474816C>T | GRCh37 |
| NC_000002.10:g.179183061C>T | NCBI36 |
| NG_011618.3:g.225714G>A , LRG_391:g.225714G>A | |
| NG_051363.1:g.92263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43732+1G>A (TTN) | ENSP00000343764.6:n.43732+1G>A | |
| ENST00000342175.11:c.24817+1G>A (TTN) | ENSP00000340554.6:n.24817+1G>A | |
| ENST00000359218.10:c.24616+1G>A (TTN) | ENSP00000352154.5:n.24616+1G>A | |
| ENST00000342175.10:c.24817+1G>A (TTN) | ENSP00000340554.6:n.24817+1G>A | |
| ENST00000342992.10:c.43732+1G>A (TTN) | ENSP00000343764.6:n.43732+1G>A | |
| ENST00000359218.9:c.24616+1G>A (TTN) | ENSP00000352154.5:n.24616+1G>A | |
| ENST00000460472.6:c.24241+1G>A (TTN) | ENSP00000434586.1:n.24241+1G>A | |
| ENST00000589042.5:c.51436+1G>A (TTN) MANE Select | ENSP00000467141.1:n.51436+1G>A | |
| ENST00000591111.5:c.46513+1G>A (TTN) | ENSP00000465570.1:n.46513+1G>A | |
| ENST00000615779.4:c.46513+1G>A (TTN) | ENSP00000483597.1:n.46513+1G>A | |
| NM_001256850.1:c.46513+1G>A (TTN) | NP_001243779.1:n.46513+1G>A | |
| NM_001267550.2:c.51436+1G>A (TTN) MANE Select | NP_001254479.2:n.51436+1G>A | |
| NM_003319.4:c.24241+1G>A (TTN) | NP_003310.4:n.24241+1G>A | |
| NM_133378.4:c.43732+1G>A (TTN) | NP_596869.4:n.43732+1G>A | |
| NM_133432.3:c.24616+1G>A (TTN) | NP_597676.3:n.24616+1G>A | |
| NM_133437.4:c.24817+1G>A (TTN) | NP_597681.4:n.24817+1G>A | |
| NR_038271.1:n.782+1823C>T (TTN-AS1) | ||
| XM_011511729.1:c.50533+1G>A (TTN) | XP_011510031.1:n.50533+1G>A | |
| XM_011511730.1:c.24427+1G>A (TTN) | XP_011510032.1:n.24427+1G>A | |
| XM_011511731.1:c.24286+1G>A (TTN) | XP_011510033.1:n.24286+1G>A | |
| XM_017004819.1:c.50329+1G>A (TTN) | XP_016860308.1:n.50329+1G>A | |
| XM_017004820.1:c.45727+1G>A (TTN) | XP_016860309.1:n.45727+1G>A | |
| XM_017004821.1:c.45724+1G>A (TTN) | XP_016860310.1:n.45724+1G>A | |
| XM_017004822.1:c.42766+1G>A (TTN) | XP_016860311.1:n.42766+1G>A | |
| XM_017004823.1:c.24382+1G>A (TTN) | XP_016860312.1:n.24382+1G>A | |
| XM_024453094.1:c.45877+1G>A (TTN) | XP_024308862.1:n.45877+1G>A | |
| XM_024453095.1:c.45874+1G>A (TTN) | XP_024308863.1:n.45874+1G>A | |
| XM_024453096.1:c.45307+1G>A (TTN) | XP_024308864.1:n.45307+1G>A | |
| XM_024453097.1:c.42649+1G>A (TTN) | XP_024308865.1:n.42649+1G>A | |
| XM_024453098.1:c.42568+1G>A (TTN) | XP_024308866.1:n.42568+1G>A | |
| XM_024453099.1:c.24331+1G>A (TTN) | XP_024308867.1:n.24331+1G>A | |
| XM_024453100.1:c.14185+1G>A (TTN) | XP_024308868.1:n.14185+1G>A |