Linked Data
ClinVar Variation Id:
535361
dbSNP Id:
rs750166986
ExAC:
2:179437037 C / T
gnomAD v2:
2-179437037-C-T
gnomAD v3:
2-178572310-C-T
gnomAD v4:
2-178572310-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572310C>T , CM000664.2:g.178572310C>T | GRCh38 |
| NC_000002.11:g.179437037C>T , CM000664.1:g.179437037C>T | GRCh37 |
| NC_000002.10:g.179145283C>T | NCBI36 |
| NG_011618.3:g.263493G>A , LRG_391:g.263493G>A | |
| NG_051363.1:g.54484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66118G>A (TTN) | ENSP00000343764.6:p.Ala22040Thr | |
| ENST00000342175.11:c.47203G>A (TTN) | ENSP00000340554.6:p.Ala15735Thr | |
| ENST00000359218.10:c.47002G>A (TTN) | ENSP00000352154.5:p.Ala15668Thr | |
| ENST00000342175.10:c.47203G>A (TTN) | ENSP00000340554.6:p.Ala15735Thr | |
| ENST00000342992.10:c.66118G>A (TTN) | ENSP00000343764.6:p.Ala22040Thr | |
| ENST00000359218.9:c.47002G>A (TTN) | ENSP00000352154.5:p.Ala15668Thr | |
| ENST00000460472.6:c.46627G>A (TTN) | ENSP00000434586.1:p.Ala15543Thr | |
| ENST00000589042.5:c.73822G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala24608Thr | |
| ENST00000591111.5:c.68899G>A (TTN) | ENSP00000465570.1:p.Ala22967Thr | |
| ENST00000615779.4:c.68899G>A (TTN) | ENSP00000483597.1:p.Ala22967Thr | |
| NM_001256850.1:c.68899G>A (TTN) | NP_001243779.1:p.Ala22967Thr | |
| NM_001267550.2:c.73822G>A (TTN) MANE Select | NP_001254479.2:p.Ala24608Thr | |
| NM_003319.4:c.46627G>A (TTN) | NP_003310.4:p.Ala15543Thr | |
| NM_133378.4:c.66118G>A (TTN) | NP_596869.4:p.Ala22040Thr | |
| NM_133432.3:c.47002G>A (TTN) | NP_597676.3:p.Ala15668Thr | |
| NM_133437.4:c.47203G>A (TTN) | NP_597681.4:p.Ala15735Thr | |
| NR_038271.1:n.596+861C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-10262C>T (TTN-AS1) | ||
| XM_011511729.1:c.72919G>A (TTN) | XP_011510031.1:p.Ala24307Thr | |
| XM_011511730.1:c.46813G>A (TTN) | XP_011510032.1:p.Ala15605Thr | |
| XM_011511731.1:c.46672G>A (TTN) | XP_011510033.1:p.Ala15558Thr | |
| XM_017004819.1:c.72715G>A (TTN) | XP_016860308.1:p.Ala24239Thr | |
| XM_017004820.1:c.68113G>A (TTN) | XP_016860309.1:p.Ala22705Thr | |
| XM_017004821.1:c.68110G>A (TTN) | XP_016860310.1:p.Ala22704Thr | |
| XM_017004822.1:c.65152G>A (TTN) | XP_016860311.1:p.Ala21718Thr | |
| XM_017004823.1:c.46768G>A (TTN) | XP_016860312.1:p.Ala15590Thr | |
| XM_024453094.1:c.68263G>A (TTN) | XP_024308862.1:p.Ala22755Thr | |
| XM_024453095.1:c.68260G>A (TTN) | XP_024308863.1:p.Ala22754Thr | |
| XM_024453096.1:c.67693G>A (TTN) | XP_024308864.1:p.Ala22565Thr | |
| XM_024453097.1:c.65035G>A (TTN) | XP_024308865.1:p.Ala21679Thr | |
| XM_024453098.1:c.64954G>A (TTN) | XP_024308866.1:p.Ala21652Thr | |
| XM_024453099.1:c.46717G>A (TTN) | XP_024308867.1:p.Ala15573Thr | |
| XM_024453100.1:c.36571G>A (TTN) | XP_024308868.1:p.Ala12191Thr |