Linked Data
ClinVar Variation Id:
281949
dbSNP Id:
rs374094732
ExAC:
2:179415947 T / C
gnomAD v2:
2-179415947-T-C
gnomAD v3:
2-178551220-T-C
gnomAD v4:
2-178551220-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551220T>C , CM000664.2:g.178551220T>C | GRCh38 |
| NC_000002.11:g.179415947T>C , CM000664.1:g.179415947T>C | GRCh37 |
| NC_000002.10:g.179124193T>C | NCBI36 |
| NG_011618.3:g.284583A>G , LRG_391:g.284583A>G | |
| NG_051363.1:g.33394T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83607A>G (TTN) | ENSP00000343764.6:p.Glu27869= | |
| ENST00000342175.11:c.64692A>G (TTN) | ENSP00000340554.6:p.Glu21564= | |
| ENST00000359218.10:c.64491A>G (TTN) | ENSP00000352154.5:p.Glu21497= | |
| ENST00000342175.10:c.64692A>G (TTN) | ENSP00000340554.6:p.Glu21564= | |
| ENST00000342992.10:c.83607A>G (TTN) | ENSP00000343764.6:p.Glu27869= | |
| ENST00000359218.9:c.64491A>G (TTN) | ENSP00000352154.5:p.Glu21497= | |
| ENST00000460472.6:c.64116A>G (TTN) | ENSP00000434586.1:p.Glu21372= | |
| ENST00000589042.5:c.91311A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu30437= | |
| ENST00000591111.5:c.86388A>G (TTN) | ENSP00000465570.1:p.Glu28796= | |
| ENST00000615779.4:c.86388A>G (TTN) | ENSP00000483597.1:p.Glu28796= | |
| NM_001256850.1:c.86388A>G (TTN) | NP_001243779.1:p.Glu28796= | |
| NM_001267550.2:c.91311A>G (TTN) MANE Select | NP_001254479.2:p.Glu30437= | |
| NM_003319.4:c.64116A>G (TTN) | NP_003310.4:p.Glu21372= | |
| NM_133378.4:c.83607A>G (TTN) | NP_596869.4:p.Glu27869= | |
| NM_133432.3:c.64491A>G (TTN) | NP_597676.3:p.Glu21497= | |
| NM_133437.4:c.64692A>G (TTN) | NP_597681.4:p.Glu21564= | |
| NR_038271.1:n.447-20080T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+8859T>C (TTN-AS1) | ||
| XM_011511729.1:c.90408A>G (TTN) | XP_011510031.1:p.Glu30136= | |
| XM_011511730.1:c.64302A>G (TTN) | XP_011510032.1:p.Glu21434= | |
| XM_011511731.1:c.64161A>G (TTN) | XP_011510033.1:p.Glu21387= | |
| XM_017004819.1:c.90204A>G (TTN) | XP_016860308.1:p.Glu30068= | |
| XM_017004820.1:c.85602A>G (TTN) | XP_016860309.1:p.Glu28534= | |
| XM_017004821.1:c.85599A>G (TTN) | XP_016860310.1:p.Glu28533= | |
| XM_017004822.1:c.82641A>G (TTN) | XP_016860311.1:p.Glu27547= | |
| XM_017004823.1:c.64257A>G (TTN) | XP_016860312.1:p.Glu21419= | |
| XM_024453094.1:c.85752A>G (TTN) | XP_024308862.1:p.Glu28584= | |
| XM_024453095.1:c.85749A>G (TTN) | XP_024308863.1:p.Glu28583= | |
| XM_024453096.1:c.85182A>G (TTN) | XP_024308864.1:p.Glu28394= | |
| XM_024453097.1:c.82524A>G (TTN) | XP_024308865.1:p.Glu27508= | |
| XM_024453098.1:c.82443A>G (TTN) | XP_024308866.1:p.Glu27481= | |
| XM_024453099.1:c.64206A>G (TTN) | XP_024308867.1:p.Glu21402= | |
| XM_024453100.1:c.54060A>G (TTN) | XP_024308868.1:p.Glu18020= |