Linked Data
ClinVar Variation Id:
47363
dbSNP Id:
rs376814602
ExAC:
2:179433011 G / A
gnomAD v2:
2-179433011-G-A
gnomAD v3:
2-178568284-G-A
gnomAD v4:
2-178568284-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568284G>A , CM000664.2:g.178568284G>A | GRCh38 |
| NC_000002.11:g.179433011G>A , CM000664.1:g.179433011G>A | GRCh37 |
| NC_000002.10:g.179141257G>A | NCBI36 |
| NG_011618.3:g.267519C>T , LRG_391:g.267519C>T | |
| NG_051363.1:g.50458G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70144C>T (TTN) | ENSP00000343764.6:p.Leu23382Phe | |
| ENST00000342175.11:c.51229C>T (TTN) | ENSP00000340554.6:p.Leu17077Phe | |
| ENST00000359218.10:c.51028C>T (TTN) | ENSP00000352154.5:p.Leu17010Phe | |
| ENST00000342175.10:c.51229C>T (TTN) | ENSP00000340554.6:p.Leu17077Phe | |
| ENST00000342992.10:c.70144C>T (TTN) | ENSP00000343764.6:p.Leu23382Phe | |
| ENST00000359218.9:c.51028C>T (TTN) | ENSP00000352154.5:p.Leu17010Phe | |
| ENST00000460472.6:c.50653C>T (TTN) | ENSP00000434586.1:p.Leu16885Phe | |
| ENST00000589042.5:c.77848C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu25950Phe | |
| ENST00000591111.5:c.72925C>T (TTN) | ENSP00000465570.1:p.Leu24309Phe | |
| ENST00000615779.4:c.72925C>T (TTN) | ENSP00000483597.1:p.Leu24309Phe | |
| NM_001256850.1:c.72925C>T (TTN) | NP_001243779.1:p.Leu24309Phe | |
| NM_001267550.2:c.77848C>T (TTN) MANE Select | NP_001254479.2:p.Leu25950Phe | |
| NM_003319.4:c.50653C>T (TTN) | NP_003310.4:p.Leu16885Phe | |
| NM_133378.4:c.70144C>T (TTN) | NP_596869.4:p.Leu23382Phe | |
| NM_133432.3:c.51028C>T (TTN) | NP_597676.3:p.Leu17010Phe | |
| NM_133437.4:c.51229C>T (TTN) | NP_597681.4:p.Leu17077Phe | |
| NR_038271.1:n.447-3016G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-14288G>A (TTN-AS1) | ||
| XM_011511729.1:c.76945C>T (TTN) | XP_011510031.1:p.Leu25649Phe | |
| XM_011511730.1:c.50839C>T (TTN) | XP_011510032.1:p.Leu16947Phe | |
| XM_011511731.1:c.50698C>T (TTN) | XP_011510033.1:p.Leu16900Phe | |
| XM_017004819.1:c.76741C>T (TTN) | XP_016860308.1:p.Leu25581Phe | |
| XM_017004820.1:c.72139C>T (TTN) | XP_016860309.1:p.Leu24047Phe | |
| XM_017004821.1:c.72136C>T (TTN) | XP_016860310.1:p.Leu24046Phe | |
| XM_017004822.1:c.69178C>T (TTN) | XP_016860311.1:p.Leu23060Phe | |
| XM_017004823.1:c.50794C>T (TTN) | XP_016860312.1:p.Leu16932Phe | |
| XM_024453094.1:c.72289C>T (TTN) | XP_024308862.1:p.Leu24097Phe | |
| XM_024453095.1:c.72286C>T (TTN) | XP_024308863.1:p.Leu24096Phe | |
| XM_024453096.1:c.71719C>T (TTN) | XP_024308864.1:p.Leu23907Phe | |
| XM_024453097.1:c.69061C>T (TTN) | XP_024308865.1:p.Leu23021Phe | |
| XM_024453098.1:c.68980C>T (TTN) | XP_024308866.1:p.Leu22994Phe | |
| XM_024453099.1:c.50743C>T (TTN) | XP_024308867.1:p.Leu16915Phe | |
| XM_024453100.1:c.40597C>T (TTN) | XP_024308868.1:p.Leu13533Phe |