Linked Data
ClinVar Variation Id:
202683
dbSNP Id:
rs148018042
ExAC:
2:179477040 C / T
gnomAD v2:
2-179477040-C-T
gnomAD v3:
2-178612313-C-T
gnomAD v4:
2-178612313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612313C>T , CM000664.2:g.178612313C>T | GRCh38 |
| NC_000002.11:g.179477040C>T , CM000664.1:g.179477040C>T | GRCh37 |
| NC_000002.10:g.179185285C>T | NCBI36 |
| NG_011618.3:g.223490G>A , LRG_391:g.223490G>A | |
| NG_051363.1:g.94487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42508G>A (TTN) | ENSP00000343764.6:p.Glu14170Lys | |
| ENST00000342175.11:c.23593G>A (TTN) | ENSP00000340554.6:p.Glu7865Lys | |
| ENST00000359218.10:c.23392G>A (TTN) | ENSP00000352154.5:p.Glu7798Lys | |
| ENST00000342175.10:c.23593G>A (TTN) | ENSP00000340554.6:p.Glu7865Lys | |
| ENST00000342992.10:c.42508G>A (TTN) | ENSP00000343764.6:p.Glu14170Lys | |
| ENST00000359218.9:c.23392G>A (TTN) | ENSP00000352154.5:p.Glu7798Lys | |
| ENST00000460472.6:c.23017G>A (TTN) | ENSP00000434586.1:p.Glu7673Lys | |
| ENST00000589042.5:c.50212G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu16738Lys | |
| ENST00000591111.5:c.45289G>A (TTN) | ENSP00000465570.1:p.Glu15097Lys | |
| ENST00000615779.4:c.45289G>A (TTN) | ENSP00000483597.1:p.Glu15097Lys | |
| NM_001256850.1:c.45289G>A (TTN) | NP_001243779.1:p.Glu15097Lys | |
| NM_001267550.2:c.50212G>A (TTN) MANE Select | NP_001254479.2:p.Glu16738Lys | |
| NM_003319.4:c.23017G>A (TTN) | NP_003310.4:p.Glu7673Lys | |
| NM_133378.4:c.42508G>A (TTN) | NP_596869.4:p.Glu14170Lys | |
| NM_133432.3:c.23392G>A (TTN) | NP_597676.3:p.Glu7798Lys | |
| NM_133437.4:c.23593G>A (TTN) | NP_597681.4:p.Glu7865Lys | |
| NR_038271.1:n.783-1722C>T (TTN-AS1) | ||
| XM_011511729.1:c.49309G>A (TTN) | XP_011510031.1:p.Glu16437Lys | |
| XM_011511730.1:c.23203G>A (TTN) | XP_011510032.1:p.Glu7735Lys | |
| XM_011511731.1:c.23062G>A (TTN) | XP_011510033.1:p.Glu7688Lys | |
| XM_017004819.1:c.49105G>A (TTN) | XP_016860308.1:p.Glu16369Lys | |
| XM_017004820.1:c.44503G>A (TTN) | XP_016860309.1:p.Glu14835Lys | |
| XM_017004821.1:c.44500G>A (TTN) | XP_016860310.1:p.Glu14834Lys | |
| XM_017004822.1:c.41542G>A (TTN) | XP_016860311.1:p.Glu13848Lys | |
| XM_017004823.1:c.23158G>A (TTN) | XP_016860312.1:p.Glu7720Lys | |
| XM_024453094.1:c.44653G>A (TTN) | XP_024308862.1:p.Glu14885Lys | |
| XM_024453095.1:c.44650G>A (TTN) | XP_024308863.1:p.Glu14884Lys | |
| XM_024453096.1:c.44083G>A (TTN) | XP_024308864.1:p.Glu14695Lys | |
| XM_024453097.1:c.41425G>A (TTN) | XP_024308865.1:p.Glu13809Lys | |
| XM_024453098.1:c.41344G>A (TTN) | XP_024308866.1:p.Glu13782Lys | |
| XM_024453099.1:c.23107G>A (TTN) | XP_024308867.1:p.Glu7703Lys | |
| XM_024453100.1:c.12961G>A (TTN) | XP_024308868.1:p.Glu4321Lys |