Linked Data
ClinVar Variation Id:
404898
dbSNP Id:
rs534340303
ExAC:
2:179443369 G / T
gnomAD v2:
2-179443369-G-T
gnomAD v3:
2-178578642-G-T
gnomAD v4:
2-178578642-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578642G>T , CM000664.2:g.178578642G>T | GRCh38 |
| NC_000002.11:g.179443369G>T , CM000664.1:g.179443369G>T | GRCh37 |
| NC_000002.10:g.179151615G>T | NCBI36 |
| NG_011618.3:g.257161C>A , LRG_391:g.257161C>A | |
| NG_051363.1:g.60816G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60594C>A (TTN) | ENSP00000343764.6:p.Asp20198Glu | |
| ENST00000342175.11:c.41679C>A (TTN) | ENSP00000340554.6:p.Asp13893Glu | |
| ENST00000359218.10:c.41478C>A (TTN) | ENSP00000352154.5:p.Asp13826Glu | |
| ENST00000342175.10:c.41679C>A (TTN) | ENSP00000340554.6:p.Asp13893Glu | |
| ENST00000342992.10:c.60594C>A (TTN) | ENSP00000343764.6:p.Asp20198Glu | |
| ENST00000359218.9:c.41478C>A (TTN) | ENSP00000352154.5:p.Asp13826Glu | |
| ENST00000460472.6:c.41103C>A (TTN) | ENSP00000434586.1:p.Asp13701Glu | |
| ENST00000589042.5:c.68298C>A (TTN) MANE Select | ENSP00000467141.1:p.Asp22766Glu | |
| ENST00000591111.5:c.63375C>A (TTN) | ENSP00000465570.1:p.Asp21125Glu | |
| ENST00000615779.4:c.63375C>A (TTN) | ENSP00000483597.1:p.Asp21125Glu | |
| NM_001256850.1:c.63375C>A (TTN) | NP_001243779.1:p.Asp21125Glu | |
| NM_001267550.2:c.68298C>A (TTN) MANE Select | NP_001254479.2:p.Asp22766Glu | |
| NM_003319.4:c.41103C>A (TTN) | NP_003310.4:p.Asp13701Glu | |
| NM_133378.4:c.60594C>A (TTN) | NP_596869.4:p.Asp20198Glu | |
| NM_133432.3:c.41478C>A (TTN) | NP_597676.3:p.Asp13826Glu | |
| NM_133437.4:c.41679C>A (TTN) | NP_597681.4:p.Asp13893Glu | |
| NR_038271.1:n.596+7193G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-3930G>T (TTN-AS1) | ||
| XM_011511729.1:c.67395C>A (TTN) | XP_011510031.1:p.Asp22465Glu | |
| XM_011511730.1:c.41289C>A (TTN) | XP_011510032.1:p.Asp13763Glu | |
| XM_011511731.1:c.41148C>A (TTN) | XP_011510033.1:p.Asp13716Glu | |
| XM_017004819.1:c.67191C>A (TTN) | XP_016860308.1:p.Asp22397Glu | |
| XM_017004820.1:c.62589C>A (TTN) | XP_016860309.1:p.Asp20863Glu | |
| XM_017004821.1:c.62586C>A (TTN) | XP_016860310.1:p.Asp20862Glu | |
| XM_017004822.1:c.59628C>A (TTN) | XP_016860311.1:p.Asp19876Glu | |
| XM_017004823.1:c.41244C>A (TTN) | XP_016860312.1:p.Asp13748Glu | |
| XM_024453094.1:c.62739C>A (TTN) | XP_024308862.1:p.Asp20913Glu | |
| XM_024453095.1:c.62736C>A (TTN) | XP_024308863.1:p.Asp20912Glu | |
| XM_024453096.1:c.62169C>A (TTN) | XP_024308864.1:p.Asp20723Glu | |
| XM_024453097.1:c.59511C>A (TTN) | XP_024308865.1:p.Asp19837Glu | |
| XM_024453098.1:c.59430C>A (TTN) | XP_024308866.1:p.Asp19810Glu | |
| XM_024453099.1:c.41193C>A (TTN) | XP_024308867.1:p.Asp13731Glu | |
| XM_024453100.1:c.31047C>A (TTN) | XP_024308868.1:p.Asp10349Glu |