Linked Data
ClinVar Variation Id:
47045
dbSNP Id:
rs397517600
ExAC:
2:179476584 C / T
gnomAD v2:
2-179476584-C-T
gnomAD v3:
2-178611857-C-T
gnomAD v4:
2-178611857-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611857C>T , CM000664.2:g.178611857C>T | GRCh38 |
| NC_000002.11:g.179476584C>T , CM000664.1:g.179476584C>T | GRCh37 |
| NC_000002.10:g.179184829C>T | NCBI36 |
| NG_011618.3:g.223946G>A , LRG_391:g.223946G>A | |
| NG_051363.1:g.94031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42748G>A (TTN) | ENSP00000343764.6:p.Glu14250Lys | |
| ENST00000342175.11:c.23833G>A (TTN) | ENSP00000340554.6:p.Glu7945Lys | |
| ENST00000359218.10:c.23632G>A (TTN) | ENSP00000352154.5:p.Glu7878Lys | |
| ENST00000342175.10:c.23833G>A (TTN) | ENSP00000340554.6:p.Glu7945Lys | |
| ENST00000342992.10:c.42748G>A (TTN) | ENSP00000343764.6:p.Glu14250Lys | |
| ENST00000359218.9:c.23632G>A (TTN) | ENSP00000352154.5:p.Glu7878Lys | |
| ENST00000460472.6:c.23257G>A (TTN) | ENSP00000434586.1:p.Glu7753Lys | |
| ENST00000589042.5:c.50452G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu16818Lys | |
| ENST00000591111.5:c.45529G>A (TTN) | ENSP00000465570.1:p.Glu15177Lys | |
| ENST00000615779.4:c.45529G>A (TTN) | ENSP00000483597.1:p.Glu15177Lys | |
| NM_001256850.1:c.45529G>A (TTN) | NP_001243779.1:p.Glu15177Lys | |
| NM_001267550.2:c.50452G>A (TTN) MANE Select | NP_001254479.2:p.Glu16818Lys | |
| NM_003319.4:c.23257G>A (TTN) | NP_003310.4:p.Glu7753Lys | |
| NM_133378.4:c.42748G>A (TTN) | NP_596869.4:p.Glu14250Lys | |
| NM_133432.3:c.23632G>A (TTN) | NP_597676.3:p.Glu7878Lys | |
| NM_133437.4:c.23833G>A (TTN) | NP_597681.4:p.Glu7945Lys | |
| NR_038271.1:n.783-2178C>T (TTN-AS1) | ||
| XM_011511729.1:c.49549G>A (TTN) | XP_011510031.1:p.Glu16517Lys | |
| XM_011511730.1:c.23443G>A (TTN) | XP_011510032.1:p.Glu7815Lys | |
| XM_011511731.1:c.23302G>A (TTN) | XP_011510033.1:p.Glu7768Lys | |
| XM_017004819.1:c.49345G>A (TTN) | XP_016860308.1:p.Glu16449Lys | |
| XM_017004820.1:c.44743G>A (TTN) | XP_016860309.1:p.Glu14915Lys | |
| XM_017004821.1:c.44740G>A (TTN) | XP_016860310.1:p.Glu14914Lys | |
| XM_017004822.1:c.41782G>A (TTN) | XP_016860311.1:p.Glu13928Lys | |
| XM_017004823.1:c.23398G>A (TTN) | XP_016860312.1:p.Glu7800Lys | |
| XM_024453094.1:c.44893G>A (TTN) | XP_024308862.1:p.Glu14965Lys | |
| XM_024453095.1:c.44890G>A (TTN) | XP_024308863.1:p.Glu14964Lys | |
| XM_024453096.1:c.44323G>A (TTN) | XP_024308864.1:p.Glu14775Lys | |
| XM_024453097.1:c.41665G>A (TTN) | XP_024308865.1:p.Glu13889Lys | |
| XM_024453098.1:c.41584G>A (TTN) | XP_024308866.1:p.Glu13862Lys | |
| XM_024453099.1:c.23347G>A (TTN) | XP_024308867.1:p.Glu7783Lys | |
| XM_024453100.1:c.13201G>A (TTN) | XP_024308868.1:p.Glu4401Lys |