Linked Data
ClinVar Variation Id:
404896
dbSNP Id:
rs200700386
ExAC:
2:179476106 G / T
gnomAD v2:
2-179476106-G-T
gnomAD v3:
2-178611379-G-T
gnomAD v4:
2-178611379-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611379G>T , CM000664.2:g.178611379G>T | GRCh38 |
| NC_000002.11:g.179476106G>T , CM000664.1:g.179476106G>T | GRCh37 |
| NC_000002.10:g.179184351G>T | NCBI36 |
| NG_011618.3:g.224424C>A , LRG_391:g.224424C>A | |
| NG_051363.1:g.93553G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43146C>A (TTN) | ENSP00000343764.6:p.Asp14382Glu | |
| ENST00000342175.11:c.24231C>A (TTN) | ENSP00000340554.6:p.Asp8077Glu | |
| ENST00000359218.10:c.24030C>A (TTN) | ENSP00000352154.5:p.Asp8010Glu | |
| ENST00000342175.10:c.24231C>A (TTN) | ENSP00000340554.6:p.Asp8077Glu | |
| ENST00000342992.10:c.43146C>A (TTN) | ENSP00000343764.6:p.Asp14382Glu | |
| ENST00000359218.9:c.24030C>A (TTN) | ENSP00000352154.5:p.Asp8010Glu | |
| ENST00000460472.6:c.23655C>A (TTN) | ENSP00000434586.1:p.Asp7885Glu | |
| ENST00000589042.5:c.50850C>A (TTN) MANE Select | ENSP00000467141.1:p.Asp16950Glu | |
| ENST00000591111.5:c.45927C>A (TTN) | ENSP00000465570.1:p.Asp15309Glu | |
| ENST00000615779.4:c.45927C>A (TTN) | ENSP00000483597.1:p.Asp15309Glu | |
| NM_001256850.1:c.45927C>A (TTN) | NP_001243779.1:p.Asp15309Glu | |
| NM_001267550.2:c.50850C>A (TTN) MANE Select | NP_001254479.2:p.Asp16950Glu | |
| NM_003319.4:c.23655C>A (TTN) | NP_003310.4:p.Asp7885Glu | |
| NM_133378.4:c.43146C>A (TTN) | NP_596869.4:p.Asp14382Glu | |
| NM_133432.3:c.24030C>A (TTN) | NP_597676.3:p.Asp8010Glu | |
| NM_133437.4:c.24231C>A (TTN) | NP_597681.4:p.Asp8077Glu | |
| NR_038271.1:n.783-2656G>T (TTN-AS1) | ||
| XM_011511729.1:c.49947C>A (TTN) | XP_011510031.1:p.Asp16649Glu | |
| XM_011511730.1:c.23841C>A (TTN) | XP_011510032.1:p.Asp7947Glu | |
| XM_011511731.1:c.23700C>A (TTN) | XP_011510033.1:p.Asp7900Glu | |
| XM_017004819.1:c.49743C>A (TTN) | XP_016860308.1:p.Asp16581Glu | |
| XM_017004820.1:c.45141C>A (TTN) | XP_016860309.1:p.Asp15047Glu | |
| XM_017004821.1:c.45138C>A (TTN) | XP_016860310.1:p.Asp15046Glu | |
| XM_017004822.1:c.42180C>A (TTN) | XP_016860311.1:p.Asp14060Glu | |
| XM_017004823.1:c.23796C>A (TTN) | XP_016860312.1:p.Asp7932Glu | |
| XM_024453094.1:c.45291C>A (TTN) | XP_024308862.1:p.Asp15097Glu | |
| XM_024453095.1:c.45288C>A (TTN) | XP_024308863.1:p.Asp15096Glu | |
| XM_024453096.1:c.44721C>A (TTN) | XP_024308864.1:p.Asp14907Glu | |
| XM_024453097.1:c.42063C>A (TTN) | XP_024308865.1:p.Asp14021Glu | |
| XM_024453098.1:c.41982C>A (TTN) | XP_024308866.1:p.Asp13994Glu | |
| XM_024453099.1:c.23745C>A (TTN) | XP_024308867.1:p.Asp7915Glu | |
| XM_024453100.1:c.13599C>A (TTN) | XP_024308868.1:p.Asp4533Glu |