Linked Data
ClinVar Variation Id:
47143
dbSNP Id:
rs397517640
ExAC:
2:179457953 C / T
gnomAD v2:
2-179457953-C-T
gnomAD v3:
2-178593226-C-T
gnomAD v4:
2-178593226-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593226C>T , CM000664.2:g.178593226C>T | GRCh38 |
| NC_000002.11:g.179457953C>T , CM000664.1:g.179457953C>T | GRCh37 |
| NC_000002.10:g.179166199C>T | NCBI36 |
| NG_011618.3:g.242577G>A , LRG_391:g.242577G>A | |
| NG_051363.1:g.75400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51278G>A (TTN) | ENSP00000343764.6:p.Gly17093Asp | |
| ENST00000342175.11:c.32363G>A (TTN) | ENSP00000340554.6:p.Gly10788Asp | |
| ENST00000359218.10:c.32162G>A (TTN) | ENSP00000352154.5:p.Gly10721Asp | |
| ENST00000342175.10:c.32363G>A (TTN) | ENSP00000340554.6:p.Gly10788Asp | |
| ENST00000342992.10:c.51278G>A (TTN) | ENSP00000343764.6:p.Gly17093Asp | |
| ENST00000359218.9:c.32162G>A (TTN) | ENSP00000352154.5:p.Gly10721Asp | |
| ENST00000460472.6:c.31787G>A (TTN) | ENSP00000434586.1:p.Gly10596Asp | |
| ENST00000589042.5:c.58982G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly19661Asp | |
| ENST00000591111.5:c.54059G>A (TTN) | ENSP00000465570.1:p.Gly18020Asp | |
| ENST00000615779.4:c.54059G>A (TTN) | ENSP00000483597.1:p.Gly18020Asp | |
| NM_001256850.1:c.54059G>A (TTN) | NP_001243779.1:p.Gly18020Asp | |
| NM_001267550.2:c.58982G>A (TTN) MANE Select | NP_001254479.2:p.Gly19661Asp | |
| NM_003319.4:c.31787G>A (TTN) | NP_003310.4:p.Gly10596Asp | |
| NM_133378.4:c.51278G>A (TTN) | NP_596869.4:p.Gly17093Asp | |
| NM_133432.3:c.32162G>A (TTN) | NP_597676.3:p.Gly10721Asp | |
| NM_133437.4:c.32363G>A (TTN) | NP_597681.4:p.Gly10788Asp | |
| NR_038271.1:n.597-4370C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+1912C>T (TTN-AS1) | ||
| XM_011511729.1:c.58079G>A (TTN) | XP_011510031.1:p.Gly19360Asp | |
| XM_011511730.1:c.31973G>A (TTN) | XP_011510032.1:p.Gly10658Asp | |
| XM_011511731.1:c.31832G>A (TTN) | XP_011510033.1:p.Gly10611Asp | |
| XM_017004819.1:c.57875G>A (TTN) | XP_016860308.1:p.Gly19292Asp | |
| XM_017004820.1:c.53273G>A (TTN) | XP_016860309.1:p.Gly17758Asp | |
| XM_017004821.1:c.53270G>A (TTN) | XP_016860310.1:p.Gly17757Asp | |
| XM_017004822.1:c.50312G>A (TTN) | XP_016860311.1:p.Gly16771Asp | |
| XM_017004823.1:c.31928G>A (TTN) | XP_016860312.1:p.Gly10643Asp | |
| XM_024453094.1:c.53423G>A (TTN) | XP_024308862.1:p.Gly17808Asp | |
| XM_024453095.1:c.53420G>A (TTN) | XP_024308863.1:p.Gly17807Asp | |
| XM_024453096.1:c.52853G>A (TTN) | XP_024308864.1:p.Gly17618Asp | |
| XM_024453097.1:c.50195G>A (TTN) | XP_024308865.1:p.Gly16732Asp | |
| XM_024453098.1:c.50114G>A (TTN) | XP_024308866.1:p.Gly16705Asp | |
| XM_024453099.1:c.31877G>A (TTN) | XP_024308867.1:p.Gly10626Asp | |
| XM_024453100.1:c.21731G>A (TTN) | XP_024308868.1:p.Gly7244Asp |