Linked Data
ClinVar Variation Id:
238841
dbSNP Id:
rs371563258
ExAC:
2:179436096 G / A
gnomAD v2:
2-179436096-G-A
gnomAD v3:
2-178571369-G-A
gnomAD v4:
2-178571369-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571369G>A , CM000664.2:g.178571369G>A | GRCh38 |
| NC_000002.11:g.179436096G>A , CM000664.1:g.179436096G>A | GRCh37 |
| NC_000002.10:g.179144342G>A | NCBI36 |
| NG_011618.3:g.264434C>T , LRG_391:g.264434C>T | |
| NG_051363.1:g.53543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67059C>T (TTN) | ENSP00000343764.6:p.Ser22353= | |
| ENST00000342175.11:c.48144C>T (TTN) | ENSP00000340554.6:p.Ser16048= | |
| ENST00000359218.10:c.47943C>T (TTN) | ENSP00000352154.5:p.Ser15981= | |
| ENST00000342175.10:c.48144C>T (TTN) | ENSP00000340554.6:p.Ser16048= | |
| ENST00000342992.10:c.67059C>T (TTN) | ENSP00000343764.6:p.Ser22353= | |
| ENST00000359218.9:c.47943C>T (TTN) | ENSP00000352154.5:p.Ser15981= | |
| ENST00000460472.6:c.47568C>T (TTN) | ENSP00000434586.1:p.Ser15856= | |
| ENST00000589042.5:c.74763C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser24921= | |
| ENST00000591111.5:c.69840C>T (TTN) | ENSP00000465570.1:p.Ser23280= | |
| ENST00000615779.4:c.69840C>T (TTN) | ENSP00000483597.1:p.Ser23280= | |
| NM_001256850.1:c.69840C>T (TTN) | NP_001243779.1:p.Ser23280= | |
| NM_001267550.2:c.74763C>T (TTN) MANE Select | NP_001254479.2:p.Ser24921= | |
| NM_003319.4:c.47568C>T (TTN) | NP_003310.4:p.Ser15856= | |
| NM_133378.4:c.67059C>T (TTN) | NP_596869.4:p.Ser22353= | |
| NM_133432.3:c.47943C>T (TTN) | NP_597676.3:p.Ser15981= | |
| NM_133437.4:c.48144C>T (TTN) | NP_597681.4:p.Ser16048= | |
| NR_038271.1:n.516G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-11203G>A (TTN-AS1) | ||
| XM_011511729.1:c.73860C>T (TTN) | XP_011510031.1:p.Ser24620= | |
| XM_011511730.1:c.47754C>T (TTN) | XP_011510032.1:p.Ser15918= | |
| XM_011511731.1:c.47613C>T (TTN) | XP_011510033.1:p.Ser15871= | |
| XM_017004819.1:c.73656C>T (TTN) | XP_016860308.1:p.Ser24552= | |
| XM_017004820.1:c.69054C>T (TTN) | XP_016860309.1:p.Ser23018= | |
| XM_017004821.1:c.69051C>T (TTN) | XP_016860310.1:p.Ser23017= | |
| XM_017004822.1:c.66093C>T (TTN) | XP_016860311.1:p.Ser22031= | |
| XM_017004823.1:c.47709C>T (TTN) | XP_016860312.1:p.Ser15903= | |
| XM_024453094.1:c.69204C>T (TTN) | XP_024308862.1:p.Ser23068= | |
| XM_024453095.1:c.69201C>T (TTN) | XP_024308863.1:p.Ser23067= | |
| XM_024453096.1:c.68634C>T (TTN) | XP_024308864.1:p.Ser22878= | |
| XM_024453097.1:c.65976C>T (TTN) | XP_024308865.1:p.Ser21992= | |
| XM_024453098.1:c.65895C>T (TTN) | XP_024308866.1:p.Ser21965= | |
| XM_024453099.1:c.47658C>T (TTN) | XP_024308867.1:p.Ser15886= | |
| XM_024453100.1:c.37512C>T (TTN) | XP_024308868.1:p.Ser12504= |