Linked Data
ClinVar Variation Id:
47582
ClinVar RCV Id:
RCV000040851
RCV000185035
RCV001082096
RCV001130876
RCV001130878
RCV001130874
RCV001130875
RCV001130877
RCV002371849
dbSNP Id:
rs373206096
ExAC:
2:179407226 A / G
gnomAD v2:
2-179407226-A-G
gnomAD v3:
2-178542499-A-G
gnomAD v4:
2-178542499-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542499A>G , CM000664.2:g.178542499A>G | GRCh38 |
| NC_000002.11:g.179407226A>G , CM000664.1:g.179407226A>G | GRCh37 |
| NC_000002.10:g.179115472A>G | NCBI36 |
| NG_011618.3:g.293304T>C , LRG_391:g.293304T>C | |
| NG_051363.1:g.24673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89553T>C (TTN) | ENSP00000343764.6:p.Ile29851= | |
| ENST00000342175.11:c.70638T>C (TTN) | ENSP00000340554.6:p.Ile23546= | |
| ENST00000359218.10:c.70437T>C (TTN) | ENSP00000352154.5:p.Ile23479= | |
| ENST00000342175.10:c.70638T>C (TTN) | ENSP00000340554.6:p.Ile23546= | |
| ENST00000342992.10:c.89553T>C (TTN) | ENSP00000343764.6:p.Ile29851= | |
| ENST00000359218.9:c.70437T>C (TTN) | ENSP00000352154.5:p.Ile23479= | |
| ENST00000460472.6:c.70062T>C (TTN) | ENSP00000434586.1:p.Ile23354= | |
| ENST00000589042.5:c.97257T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile32419= | |
| ENST00000591111.5:c.92334T>C (TTN) | ENSP00000465570.1:p.Ile30778= | |
| ENST00000615779.4:c.92334T>C (TTN) | ENSP00000483597.1:p.Ile30778= | |
| NM_001256850.1:c.92334T>C (TTN) | NP_001243779.1:p.Ile30778= | |
| NM_001267550.2:c.97257T>C (TTN) MANE Select | NP_001254479.2:p.Ile32419= | |
| NM_003319.4:c.70062T>C (TTN) | NP_003310.4:p.Ile23354= | |
| NM_133378.4:c.89553T>C (TTN) | NP_596869.4:p.Ile29851= | |
| NM_133432.3:c.70437T>C (TTN) | NP_597676.3:p.Ile23479= | |
| NM_133437.4:c.70638T>C (TTN) | NP_597681.4:p.Ile23546= | |
| NR_038271.1:n.446+18863A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+138A>G (TTN-AS1) | ||
| XM_011511729.1:c.96354T>C (TTN) | XP_011510031.1:p.Ile32118= | |
| XM_011511730.1:c.70248T>C (TTN) | XP_011510032.1:p.Ile23416= | |
| XM_011511731.1:c.70107T>C (TTN) | XP_011510033.1:p.Ile23369= | |
| XM_017004819.1:c.96150T>C (TTN) | XP_016860308.1:p.Ile32050= | |
| XM_017004820.1:c.91548T>C (TTN) | XP_016860309.1:p.Ile30516= | |
| XM_017004821.1:c.91545T>C (TTN) | XP_016860310.1:p.Ile30515= | |
| XM_017004822.1:c.88587T>C (TTN) | XP_016860311.1:p.Ile29529= | |
| XM_017004823.1:c.70203T>C (TTN) | XP_016860312.1:p.Ile23401= | |
| XM_024453094.1:c.91698T>C (TTN) | XP_024308862.1:p.Ile30566= | |
| XM_024453095.1:c.91695T>C (TTN) | XP_024308863.1:p.Ile30565= | |
| XM_024453096.1:c.91128T>C (TTN) | XP_024308864.1:p.Ile30376= | |
| XM_024453097.1:c.88470T>C (TTN) | XP_024308865.1:p.Ile29490= | |
| XM_024453098.1:c.88389T>C (TTN) | XP_024308866.1:p.Ile29463= | |
| XM_024453099.1:c.70152T>C (TTN) | XP_024308867.1:p.Ile23384= | |
| XM_024453100.1:c.60006T>C (TTN) | XP_024308868.1:p.Ile20002= |