Linked Data
ClinVar Variation Id:
467520
dbSNP Id:
rs369019463
ExAC:
2:179431608 C / G
gnomAD v2:
2-179431608-C-G
gnomAD v3:
2-178566881-C-G
gnomAD v4:
2-178566881-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566881C>G , CM000664.2:g.178566881C>G | GRCh38 |
| NC_000002.11:g.179431608C>G , CM000664.1:g.179431608C>G | GRCh37 |
| NC_000002.10:g.179139854C>G | NCBI36 |
| NG_011618.3:g.268922G>C , LRG_391:g.268922G>C | |
| NG_051363.1:g.49055C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71547G>C (TTN) | ENSP00000343764.6:p.Glu23849Asp | |
| ENST00000342175.11:c.52632G>C (TTN) | ENSP00000340554.6:p.Glu17544Asp | |
| ENST00000359218.10:c.52431G>C (TTN) | ENSP00000352154.5:p.Glu17477Asp | |
| ENST00000342175.10:c.52632G>C (TTN) | ENSP00000340554.6:p.Glu17544Asp | |
| ENST00000342992.10:c.71547G>C (TTN) | ENSP00000343764.6:p.Glu23849Asp | |
| ENST00000359218.9:c.52431G>C (TTN) | ENSP00000352154.5:p.Glu17477Asp | |
| ENST00000460472.6:c.52056G>C (TTN) | ENSP00000434586.1:p.Glu17352Asp | |
| ENST00000589042.5:c.79251G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu26417Asp | |
| ENST00000591111.5:c.74328G>C (TTN) | ENSP00000465570.1:p.Glu24776Asp | |
| ENST00000615779.4:c.74328G>C (TTN) | ENSP00000483597.1:p.Glu24776Asp | |
| NM_001256850.1:c.74328G>C (TTN) | NP_001243779.1:p.Glu24776Asp | |
| NM_001267550.2:c.79251G>C (TTN) MANE Select | NP_001254479.2:p.Glu26417Asp | |
| NM_003319.4:c.52056G>C (TTN) | NP_003310.4:p.Glu17352Asp | |
| NM_133378.4:c.71547G>C (TTN) | NP_596869.4:p.Glu23849Asp | |
| NM_133432.3:c.52431G>C (TTN) | NP_597676.3:p.Glu17477Asp | |
| NM_133437.4:c.52632G>C (TTN) | NP_597681.4:p.Glu17544Asp | |
| NR_038271.1:n.447-4419C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-15691C>G (TTN-AS1) | ||
| XM_011511729.1:c.78348G>C (TTN) | XP_011510031.1:p.Glu26116Asp | |
| XM_011511730.1:c.52242G>C (TTN) | XP_011510032.1:p.Glu17414Asp | |
| XM_011511731.1:c.52101G>C (TTN) | XP_011510033.1:p.Glu17367Asp | |
| XM_017004819.1:c.78144G>C (TTN) | XP_016860308.1:p.Glu26048Asp | |
| XM_017004820.1:c.73542G>C (TTN) | XP_016860309.1:p.Glu24514Asp | |
| XM_017004821.1:c.73539G>C (TTN) | XP_016860310.1:p.Glu24513Asp | |
| XM_017004822.1:c.70581G>C (TTN) | XP_016860311.1:p.Glu23527Asp | |
| XM_017004823.1:c.52197G>C (TTN) | XP_016860312.1:p.Glu17399Asp | |
| XM_024453094.1:c.73692G>C (TTN) | XP_024308862.1:p.Glu24564Asp | |
| XM_024453095.1:c.73689G>C (TTN) | XP_024308863.1:p.Glu24563Asp | |
| XM_024453096.1:c.73122G>C (TTN) | XP_024308864.1:p.Glu24374Asp | |
| XM_024453097.1:c.70464G>C (TTN) | XP_024308865.1:p.Glu23488Asp | |
| XM_024453098.1:c.70383G>C (TTN) | XP_024308866.1:p.Glu23461Asp | |
| XM_024453099.1:c.52146G>C (TTN) | XP_024308867.1:p.Glu17382Asp | |
| XM_024453100.1:c.42000G>C (TTN) | XP_024308868.1:p.Glu14000Asp |