Linked Data
ClinVar Variation Id:
332808
dbSNP Id:
rs866763453
gnomAD v2:
2-179449256-G-A
gnomAD v3:
2-178584529-G-A
gnomAD v4:
2-178584529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584529G>A , CM000664.2:g.178584529G>A | GRCh38 |
| NC_000002.11:g.179449256G>A , CM000664.1:g.179449256G>A | GRCh37 |
| NC_000002.10:g.179157502G>A | NCBI36 |
| NG_011618.3:g.251274C>T , LRG_391:g.251274C>T | |
| NG_051363.1:g.66703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57318C>T (TTN) | ENSP00000343764.6:p.Asp19106= | |
| ENST00000342175.11:c.38403C>T (TTN) | ENSP00000340554.6:p.Asp12801= | |
| ENST00000359218.10:c.38202C>T (TTN) | ENSP00000352154.5:p.Asp12734= | |
| ENST00000342175.10:c.38403C>T (TTN) | ENSP00000340554.6:p.Asp12801= | |
| ENST00000342992.10:c.57318C>T (TTN) | ENSP00000343764.6:p.Asp19106= | |
| ENST00000359218.9:c.38202C>T (TTN) | ENSP00000352154.5:p.Asp12734= | |
| ENST00000460472.6:c.37827C>T (TTN) | ENSP00000434586.1:p.Asp12609= | |
| ENST00000589042.5:c.65022C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp21674= | |
| ENST00000591111.5:c.60099C>T (TTN) | ENSP00000465570.1:p.Asp20033= | |
| ENST00000615779.4:c.60099C>T (TTN) | ENSP00000483597.1:p.Asp20033= | |
| NM_001256850.1:c.60099C>T (TTN) | NP_001243779.1:p.Asp20033= | |
| NM_001267550.2:c.65022C>T (TTN) MANE Select | NP_001254479.2:p.Asp21674= | |
| NM_003319.4:c.37827C>T (TTN) | NP_003310.4:p.Asp12609= | |
| NM_133378.4:c.57318C>T (TTN) | NP_596869.4:p.Asp19106= | |
| NM_133432.3:c.38202C>T (TTN) | NP_597676.3:p.Asp12734= | |
| NM_133437.4:c.38403C>T (TTN) | NP_597681.4:p.Asp12801= | |
| NR_038271.1:n.597-13067G>A (TTN-AS1) | ||
| NR_038272.1:n.2768-44G>A (TTN-AS1) | ||
| XM_011511729.1:c.64119C>T (TTN) | XP_011510031.1:p.Asp21373= | |
| XM_011511730.1:c.38013C>T (TTN) | XP_011510032.1:p.Asp12671= | |
| XM_011511731.1:c.37872C>T (TTN) | XP_011510033.1:p.Asp12624= | |
| XM_017004819.1:c.63915C>T (TTN) | XP_016860308.1:p.Asp21305= | |
| XM_017004820.1:c.59313C>T (TTN) | XP_016860309.1:p.Asp19771= | |
| XM_017004821.1:c.59310C>T (TTN) | XP_016860310.1:p.Asp19770= | |
| XM_017004822.1:c.56352C>T (TTN) | XP_016860311.1:p.Asp18784= | |
| XM_017004823.1:c.37968C>T (TTN) | XP_016860312.1:p.Asp12656= | |
| XM_024453094.1:c.59463C>T (TTN) | XP_024308862.1:p.Asp19821= | |
| XM_024453095.1:c.59460C>T (TTN) | XP_024308863.1:p.Asp19820= | |
| XM_024453096.1:c.58893C>T (TTN) | XP_024308864.1:p.Asp19631= | |
| XM_024453097.1:c.56235C>T (TTN) | XP_024308865.1:p.Asp18745= | |
| XM_024453098.1:c.56154C>T (TTN) | XP_024308866.1:p.Asp18718= | |
| XM_024453099.1:c.37917C>T (TTN) | XP_024308867.1:p.Asp12639= | |
| XM_024453100.1:c.27771C>T (TTN) | XP_024308868.1:p.Asp9257= |