Linked Data
ClinVar Variation Id:
332820
dbSNP Id:
rs369893671
ExAC:
2:179456109 C / T
gnomAD v2:
2-179456109-C-T
gnomAD v3:
2-178591382-C-T
gnomAD v4:
2-178591382-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591382C>T , CM000664.2:g.178591382C>T | GRCh38 |
| NC_000002.11:g.179456109C>T , CM000664.1:g.179456109C>T | GRCh37 |
| NC_000002.10:g.179164355C>T | NCBI36 |
| NG_011618.3:g.244421G>A , LRG_391:g.244421G>A | |
| NG_051363.1:g.73556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52639G>A (TTN) | ENSP00000343764.6:p.Asp17547Asn | |
| ENST00000342175.11:c.33724G>A (TTN) | ENSP00000340554.6:p.Asp11242Asn | |
| ENST00000359218.10:c.33523G>A (TTN) | ENSP00000352154.5:p.Asp11175Asn | |
| ENST00000342175.10:c.33724G>A (TTN) | ENSP00000340554.6:p.Asp11242Asn | |
| ENST00000342992.10:c.52639G>A (TTN) | ENSP00000343764.6:p.Asp17547Asn | |
| ENST00000359218.9:c.33523G>A (TTN) | ENSP00000352154.5:p.Asp11175Asn | |
| ENST00000460472.6:c.33148G>A (TTN) | ENSP00000434586.1:p.Asp11050Asn | |
| ENST00000589042.5:c.60343G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp20115Asn | |
| ENST00000591111.5:c.55420G>A (TTN) | ENSP00000465570.1:p.Asp18474Asn | |
| ENST00000615779.4:c.55420G>A (TTN) | ENSP00000483597.1:p.Asp18474Asn | |
| NM_001256850.1:c.55420G>A (TTN) | NP_001243779.1:p.Asp18474Asn | |
| NM_001267550.2:c.60343G>A (TTN) MANE Select | NP_001254479.2:p.Asp20115Asn | |
| NM_003319.4:c.33148G>A (TTN) | NP_003310.4:p.Asp11050Asn | |
| NM_133378.4:c.52639G>A (TTN) | NP_596869.4:p.Asp17547Asn | |
| NM_133432.3:c.33523G>A (TTN) | NP_597676.3:p.Asp11175Asn | |
| NM_133437.4:c.33724G>A (TTN) | NP_597681.4:p.Asp11242Asn | |
| NR_038271.1:n.597-6214C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+68C>T (TTN-AS1) | ||
| XM_011511729.1:c.59440G>A (TTN) | XP_011510031.1:p.Asp19814Asn | |
| XM_011511730.1:c.33334G>A (TTN) | XP_011510032.1:p.Asp11112Asn | |
| XM_011511731.1:c.33193G>A (TTN) | XP_011510033.1:p.Asp11065Asn | |
| XM_017004819.1:c.59236G>A (TTN) | XP_016860308.1:p.Asp19746Asn | |
| XM_017004820.1:c.54634G>A (TTN) | XP_016860309.1:p.Asp18212Asn | |
| XM_017004821.1:c.54631G>A (TTN) | XP_016860310.1:p.Asp18211Asn | |
| XM_017004822.1:c.51673G>A (TTN) | XP_016860311.1:p.Asp17225Asn | |
| XM_017004823.1:c.33289G>A (TTN) | XP_016860312.1:p.Asp11097Asn | |
| XM_024453094.1:c.54784G>A (TTN) | XP_024308862.1:p.Asp18262Asn | |
| XM_024453095.1:c.54781G>A (TTN) | XP_024308863.1:p.Asp18261Asn | |
| XM_024453096.1:c.54214G>A (TTN) | XP_024308864.1:p.Asp18072Asn | |
| XM_024453097.1:c.51556G>A (TTN) | XP_024308865.1:p.Asp17186Asn | |
| XM_024453098.1:c.51475G>A (TTN) | XP_024308866.1:p.Asp17159Asn | |
| XM_024453099.1:c.33238G>A (TTN) | XP_024308867.1:p.Asp11080Asn | |
| XM_024453100.1:c.23092G>A (TTN) | XP_024308868.1:p.Asp7698Asn |