Linked Data
ClinVar Variation Id:
498717
dbSNP Id:
rs879099244
gnomAD v2:
2-179482214-T-C
gnomAD v3:
2-178617487-T-C
gnomAD v4:
2-178617487-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617487T>C , CM000664.2:g.178617487T>C | GRCh38 |
| NC_000002.11:g.179482214T>C , CM000664.1:g.179482214T>C | GRCh37 |
| NC_000002.10:g.179190459T>C | NCBI36 |
| NG_011618.3:g.218316A>G , LRG_391:g.218316A>G | |
| NG_051363.1:g.99661T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39894A>G (TTN) | ENSP00000343764.6:p.Leu13298= | |
| ENST00000342175.11:c.20979A>G (TTN) | ENSP00000340554.6:p.Leu6993= | |
| ENST00000359218.10:c.20778A>G (TTN) | ENSP00000352154.5:p.Leu6926= | |
| ENST00000342175.10:c.20979A>G (TTN) | ENSP00000340554.6:p.Leu6993= | |
| ENST00000342992.10:c.39894A>G (TTN) | ENSP00000343764.6:p.Leu13298= | |
| ENST00000359218.9:c.20778A>G (TTN) | ENSP00000352154.5:p.Leu6926= | |
| ENST00000460472.6:c.20403A>G (TTN) | ENSP00000434586.1:p.Leu6801= | |
| ENST00000589042.5:c.47598A>G (TTN) MANE Select | ENSP00000467141.1:p.Leu15866= | |
| ENST00000591111.5:c.42675A>G (TTN) | ENSP00000465570.1:p.Leu14225= | |
| ENST00000615779.4:c.42675A>G (TTN) | ENSP00000483597.1:p.Leu14225= | |
| NM_001256850.1:c.42675A>G (TTN) | NP_001243779.1:p.Leu14225= | |
| NM_001267550.2:c.47598A>G (TTN) MANE Select | NP_001254479.2:p.Leu15866= | |
| NM_003319.4:c.20403A>G (TTN) | NP_003310.4:p.Leu6801= | |
| NM_133378.4:c.39894A>G (TTN) | NP_596869.4:p.Leu13298= | |
| NM_133432.3:c.20778A>G (TTN) | NP_597676.3:p.Leu6926= | |
| NM_133437.4:c.20979A>G (TTN) | NP_597681.4:p.Leu6993= | |
| NR_038271.1:n.1604+2113T>C (TTN-AS1) | ||
| XM_011511729.1:c.46695A>G (TTN) | XP_011510031.1:p.Leu15565= | |
| XM_011511730.1:c.20589A>G (TTN) | XP_011510032.1:p.Leu6863= | |
| XM_011511731.1:c.20448A>G (TTN) | XP_011510033.1:p.Leu6816= | |
| XM_017004819.1:c.46491A>G (TTN) | XP_016860308.1:p.Leu15497= | |
| XM_017004820.1:c.41889A>G (TTN) | XP_016860309.1:p.Leu13963= | |
| XM_017004821.1:c.41886A>G (TTN) | XP_016860310.1:p.Leu13962= | |
| XM_017004822.1:c.38928A>G (TTN) | XP_016860311.1:p.Leu12976= | |
| XM_017004823.1:c.20544A>G (TTN) | XP_016860312.1:p.Leu6848= | |
| XM_024453094.1:c.42039A>G (TTN) | XP_024308862.1:p.Leu14013= | |
| XM_024453095.1:c.42036A>G (TTN) | XP_024308863.1:p.Leu14012= | |
| XM_024453096.1:c.41469A>G (TTN) | XP_024308864.1:p.Leu13823= | |
| XM_024453097.1:c.38811A>G (TTN) | XP_024308865.1:p.Leu12937= | |
| XM_024453098.1:c.38730A>G (TTN) | XP_024308866.1:p.Leu12910= | |
| XM_024453099.1:c.20493A>G (TTN) | XP_024308867.1:p.Leu6831= | |
| XM_024453100.1:c.10347A>G (TTN) | XP_024308868.1:p.Leu3449= |