Linked Data
ClinVar Variation Id:
191907
dbSNP Id:
rs775146212
ExAC:
2:179440817 C / T
gnomAD v2:
2-179440817-C-T
gnomAD v3:
2-178576090-C-T
gnomAD v4:
2-178576090-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576090C>T , CM000664.2:g.178576090C>T | GRCh38 |
| NC_000002.11:g.179440817C>T , CM000664.1:g.179440817C>T | GRCh37 |
| NC_000002.10:g.179149063C>T | NCBI36 |
| NG_011618.3:g.259713G>A , LRG_391:g.259713G>A | |
| NG_051363.1:g.58264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62338G>A (TTN) | ENSP00000343764.6:p.Ala20780Thr | |
| ENST00000342175.11:c.43423G>A (TTN) | ENSP00000340554.6:p.Ala14475Thr | |
| ENST00000359218.10:c.43222G>A (TTN) | ENSP00000352154.5:p.Ala14408Thr | |
| ENST00000342175.10:c.43423G>A (TTN) | ENSP00000340554.6:p.Ala14475Thr | |
| ENST00000342992.10:c.62338G>A (TTN) | ENSP00000343764.6:p.Ala20780Thr | |
| ENST00000359218.9:c.43222G>A (TTN) | ENSP00000352154.5:p.Ala14408Thr | |
| ENST00000460472.6:c.42847G>A (TTN) | ENSP00000434586.1:p.Ala14283Thr | |
| ENST00000589042.5:c.70042G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala23348Thr | |
| ENST00000591111.5:c.65119G>A (TTN) | ENSP00000465570.1:p.Ala21707Thr | |
| ENST00000615779.4:c.65119G>A (TTN) | ENSP00000483597.1:p.Ala21707Thr | |
| NM_001256850.1:c.65119G>A (TTN) | NP_001243779.1:p.Ala21707Thr | |
| NM_001267550.2:c.70042G>A (TTN) MANE Select | NP_001254479.2:p.Ala23348Thr | |
| NM_003319.4:c.42847G>A (TTN) | NP_003310.4:p.Ala14283Thr | |
| NM_133378.4:c.62338G>A (TTN) | NP_596869.4:p.Ala20780Thr | |
| NM_133432.3:c.43222G>A (TTN) | NP_597676.3:p.Ala14408Thr | |
| NM_133437.4:c.43423G>A (TTN) | NP_597681.4:p.Ala14475Thr | |
| NR_038271.1:n.596+4641C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-6482C>T (TTN-AS1) | ||
| XM_011511729.1:c.69139G>A (TTN) | XP_011510031.1:p.Ala23047Thr | |
| XM_011511730.1:c.43033G>A (TTN) | XP_011510032.1:p.Ala14345Thr | |
| XM_011511731.1:c.42892G>A (TTN) | XP_011510033.1:p.Ala14298Thr | |
| XM_017004819.1:c.68935G>A (TTN) | XP_016860308.1:p.Ala22979Thr | |
| XM_017004820.1:c.64333G>A (TTN) | XP_016860309.1:p.Ala21445Thr | |
| XM_017004821.1:c.64330G>A (TTN) | XP_016860310.1:p.Ala21444Thr | |
| XM_017004822.1:c.61372G>A (TTN) | XP_016860311.1:p.Ala20458Thr | |
| XM_017004823.1:c.42988G>A (TTN) | XP_016860312.1:p.Ala14330Thr | |
| XM_024453094.1:c.64483G>A (TTN) | XP_024308862.1:p.Ala21495Thr | |
| XM_024453095.1:c.64480G>A (TTN) | XP_024308863.1:p.Ala21494Thr | |
| XM_024453096.1:c.63913G>A (TTN) | XP_024308864.1:p.Ala21305Thr | |
| XM_024453097.1:c.61255G>A (TTN) | XP_024308865.1:p.Ala20419Thr | |
| XM_024453098.1:c.61174G>A (TTN) | XP_024308866.1:p.Ala20392Thr | |
| XM_024453099.1:c.42937G>A (TTN) | XP_024308867.1:p.Ala14313Thr | |
| XM_024453100.1:c.32791G>A (TTN) | XP_024308868.1:p.Ala10931Thr |