Linked Data
ClinVar Variation Id:
451886
dbSNP Id:
rs772625773
ExAC:
2:179482114 C / T
gnomAD v2:
2-179482114-C-T
gnomAD v4:
2-178617387-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617387C>T , CM000664.2:g.178617387C>T | GRCh38 |
| NC_000002.11:g.179482114C>T , CM000664.1:g.179482114C>T | GRCh37 |
| NC_000002.10:g.179190359C>T | NCBI36 |
| NG_011618.3:g.218416G>A , LRG_391:g.218416G>A | |
| NG_051363.1:g.99561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39994G>A (TTN) | ENSP00000343764.6:p.Glu13332Lys | |
| ENST00000342175.11:c.21079G>A (TTN) | ENSP00000340554.6:p.Glu7027Lys | |
| ENST00000359218.10:c.20878G>A (TTN) | ENSP00000352154.5:p.Glu6960Lys | |
| ENST00000342175.10:c.21079G>A (TTN) | ENSP00000340554.6:p.Glu7027Lys | |
| ENST00000342992.10:c.39994G>A (TTN) | ENSP00000343764.6:p.Glu13332Lys | |
| ENST00000359218.9:c.20878G>A (TTN) | ENSP00000352154.5:p.Glu6960Lys | |
| ENST00000460472.6:c.20503G>A (TTN) | ENSP00000434586.1:p.Glu6835Lys | |
| ENST00000589042.5:c.47698G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu15900Lys | |
| ENST00000591111.5:c.42775G>A (TTN) | ENSP00000465570.1:p.Glu14259Lys | |
| ENST00000615779.4:c.42775G>A (TTN) | ENSP00000483597.1:p.Glu14259Lys | |
| NM_001256850.1:c.42775G>A (TTN) | NP_001243779.1:p.Glu14259Lys | |
| NM_001267550.2:c.47698G>A (TTN) MANE Select | NP_001254479.2:p.Glu15900Lys | |
| NM_003319.4:c.20503G>A (TTN) | NP_003310.4:p.Glu6835Lys | |
| NM_133378.4:c.39994G>A (TTN) | NP_596869.4:p.Glu13332Lys | |
| NM_133432.3:c.20878G>A (TTN) | NP_597676.3:p.Glu6960Lys | |
| NM_133437.4:c.21079G>A (TTN) | NP_597681.4:p.Glu7027Lys | |
| NR_038271.1:n.1604+2013C>T (TTN-AS1) | ||
| XM_011511729.1:c.46795G>A (TTN) | XP_011510031.1:p.Glu15599Lys | |
| XM_011511730.1:c.20689G>A (TTN) | XP_011510032.1:p.Glu6897Lys | |
| XM_011511731.1:c.20548G>A (TTN) | XP_011510033.1:p.Glu6850Lys | |
| XM_017004819.1:c.46591G>A (TTN) | XP_016860308.1:p.Glu15531Lys | |
| XM_017004820.1:c.41989G>A (TTN) | XP_016860309.1:p.Glu13997Lys | |
| XM_017004821.1:c.41986G>A (TTN) | XP_016860310.1:p.Glu13996Lys | |
| XM_017004822.1:c.39028G>A (TTN) | XP_016860311.1:p.Glu13010Lys | |
| XM_017004823.1:c.20644G>A (TTN) | XP_016860312.1:p.Glu6882Lys | |
| XM_024453094.1:c.42139G>A (TTN) | XP_024308862.1:p.Glu14047Lys | |
| XM_024453095.1:c.42136G>A (TTN) | XP_024308863.1:p.Glu14046Lys | |
| XM_024453096.1:c.41569G>A (TTN) | XP_024308864.1:p.Glu13857Lys | |
| XM_024453097.1:c.38911G>A (TTN) | XP_024308865.1:p.Glu12971Lys | |
| XM_024453098.1:c.38830G>A (TTN) | XP_024308866.1:p.Glu12944Lys | |
| XM_024453099.1:c.20593G>A (TTN) | XP_024308867.1:p.Glu6865Lys | |
| XM_024453100.1:c.10447G>A (TTN) | XP_024308868.1:p.Glu3483Lys |