Linked Data
ClinVar Variation Id:
47203
dbSNP Id:
rs397517655
ExAC:
2:179451978 A / T
gnomAD v2:
2-179451978-A-T
gnomAD v3:
2-178587251-A-T
gnomAD v4:
2-178587251-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587251A>T , CM000664.2:g.178587251A>T | GRCh38 |
| NC_000002.11:g.179451978A>T , CM000664.1:g.179451978A>T | GRCh37 |
| NC_000002.10:g.179160224A>T | NCBI36 |
| NG_011618.3:g.248552T>A , LRG_391:g.248552T>A | |
| NG_051363.1:g.69425A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56256T>A (TTN) | ENSP00000343764.6:p.Val18752= | |
| ENST00000342175.11:c.37341T>A (TTN) | ENSP00000340554.6:p.Val12447= | |
| ENST00000359218.10:c.37140T>A (TTN) | ENSP00000352154.5:p.Val12380= | |
| ENST00000342175.10:c.37341T>A (TTN) | ENSP00000340554.6:p.Val12447= | |
| ENST00000342992.10:c.56256T>A (TTN) | ENSP00000343764.6:p.Val18752= | |
| ENST00000359218.9:c.37140T>A (TTN) | ENSP00000352154.5:p.Val12380= | |
| ENST00000460472.6:c.36765T>A (TTN) | ENSP00000434586.1:p.Val12255= | |
| ENST00000589042.5:c.63960T>A (TTN) MANE Select | ENSP00000467141.1:p.Val21320= | |
| ENST00000591111.5:c.59037T>A (TTN) | ENSP00000465570.1:p.Val19679= | |
| ENST00000615779.4:c.59037T>A (TTN) | ENSP00000483597.1:p.Val19679= | |
| NM_001256850.1:c.59037T>A (TTN) | NP_001243779.1:p.Val19679= | |
| NM_001267550.2:c.63960T>A (TTN) MANE Select | NP_001254479.2:p.Val21320= | |
| NM_003319.4:c.36765T>A (TTN) | NP_003310.4:p.Val12255= | |
| NM_133378.4:c.56256T>A (TTN) | NP_596869.4:p.Val18752= | |
| NM_133432.3:c.37140T>A (TTN) | NP_597676.3:p.Val12380= | |
| NM_133437.4:c.37341T>A (TTN) | NP_597681.4:p.Val12447= | |
| NR_038271.1:n.597-10345A>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2258A>T (TTN-AS1) | ||
| XM_011511729.1:c.63057T>A (TTN) | XP_011510031.1:p.Val21019= | |
| XM_011511730.1:c.36951T>A (TTN) | XP_011510032.1:p.Val12317= | |
| XM_011511731.1:c.36810T>A (TTN) | XP_011510033.1:p.Val12270= | |
| XM_017004819.1:c.62853T>A (TTN) | XP_016860308.1:p.Val20951= | |
| XM_017004820.1:c.58251T>A (TTN) | XP_016860309.1:p.Val19417= | |
| XM_017004821.1:c.58248T>A (TTN) | XP_016860310.1:p.Val19416= | |
| XM_017004822.1:c.55290T>A (TTN) | XP_016860311.1:p.Val18430= | |
| XM_017004823.1:c.36906T>A (TTN) | XP_016860312.1:p.Val12302= | |
| XM_024453094.1:c.58401T>A (TTN) | XP_024308862.1:p.Val19467= | |
| XM_024453095.1:c.58398T>A (TTN) | XP_024308863.1:p.Val19466= | |
| XM_024453096.1:c.57831T>A (TTN) | XP_024308864.1:p.Val19277= | |
| XM_024453097.1:c.55173T>A (TTN) | XP_024308865.1:p.Val18391= | |
| XM_024453098.1:c.55092T>A (TTN) | XP_024308866.1:p.Val18364= | |
| XM_024453099.1:c.36855T>A (TTN) | XP_024308867.1:p.Val12285= | |
| XM_024453100.1:c.26709T>A (TTN) | XP_024308868.1:p.Val8903= |