Linked Data
ClinVar Variation Id:
535665
dbSNP Id:
rs776889753
ExAC:
2:179439554 T / A
gnomAD v2:
2-179439554-T-A
gnomAD v4:
2-178574827-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574827T>A , CM000664.2:g.178574827T>A | GRCh38 |
| NC_000002.11:g.179439554T>A , CM000664.1:g.179439554T>A | GRCh37 |
| NC_000002.10:g.179147800T>A | NCBI36 |
| NG_011618.3:g.260976A>T , LRG_391:g.260976A>T | |
| NG_051363.1:g.57001T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63601A>T (TTN) | ENSP00000343764.6:p.Thr21201Ser | |
| ENST00000342175.11:c.44686A>T (TTN) | ENSP00000340554.6:p.Thr14896Ser | |
| ENST00000359218.10:c.44485A>T (TTN) | ENSP00000352154.5:p.Thr14829Ser | |
| ENST00000342175.10:c.44686A>T (TTN) | ENSP00000340554.6:p.Thr14896Ser | |
| ENST00000342992.10:c.63601A>T (TTN) | ENSP00000343764.6:p.Thr21201Ser | |
| ENST00000359218.9:c.44485A>T (TTN) | ENSP00000352154.5:p.Thr14829Ser | |
| ENST00000460472.6:c.44110A>T (TTN) | ENSP00000434586.1:p.Thr14704Ser | |
| ENST00000589042.5:c.71305A>T (TTN) MANE Select | ENSP00000467141.1:p.Thr23769Ser | |
| ENST00000591111.5:c.66382A>T (TTN) | ENSP00000465570.1:p.Thr22128Ser | |
| ENST00000615779.4:c.66382A>T (TTN) | ENSP00000483597.1:p.Thr22128Ser | |
| NM_001256850.1:c.66382A>T (TTN) | NP_001243779.1:p.Thr22128Ser | |
| NM_001267550.2:c.71305A>T (TTN) MANE Select | NP_001254479.2:p.Thr23769Ser | |
| NM_003319.4:c.44110A>T (TTN) | NP_003310.4:p.Thr14704Ser | |
| NM_133378.4:c.63601A>T (TTN) | NP_596869.4:p.Thr21201Ser | |
| NM_133432.3:c.44485A>T (TTN) | NP_597676.3:p.Thr14829Ser | |
| NM_133437.4:c.44686A>T (TTN) | NP_597681.4:p.Thr14896Ser | |
| NR_038271.1:n.596+3378T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-7745T>A (TTN-AS1) | ||
| XM_011511729.1:c.70402A>T (TTN) | XP_011510031.1:p.Thr23468Ser | |
| XM_011511730.1:c.44296A>T (TTN) | XP_011510032.1:p.Thr14766Ser | |
| XM_011511731.1:c.44155A>T (TTN) | XP_011510033.1:p.Thr14719Ser | |
| XM_017004819.1:c.70198A>T (TTN) | XP_016860308.1:p.Thr23400Ser | |
| XM_017004820.1:c.65596A>T (TTN) | XP_016860309.1:p.Thr21866Ser | |
| XM_017004821.1:c.65593A>T (TTN) | XP_016860310.1:p.Thr21865Ser | |
| XM_017004822.1:c.62635A>T (TTN) | XP_016860311.1:p.Thr20879Ser | |
| XM_017004823.1:c.44251A>T (TTN) | XP_016860312.1:p.Thr14751Ser | |
| XM_024453094.1:c.65746A>T (TTN) | XP_024308862.1:p.Thr21916Ser | |
| XM_024453095.1:c.65743A>T (TTN) | XP_024308863.1:p.Thr21915Ser | |
| XM_024453096.1:c.65176A>T (TTN) | XP_024308864.1:p.Thr21726Ser | |
| XM_024453097.1:c.62518A>T (TTN) | XP_024308865.1:p.Thr20840Ser | |
| XM_024453098.1:c.62437A>T (TTN) | XP_024308866.1:p.Thr20813Ser | |
| XM_024453099.1:c.44200A>T (TTN) | XP_024308867.1:p.Thr14734Ser | |
| XM_024453100.1:c.34054A>T (TTN) | XP_024308868.1:p.Thr11352Ser |