Linked Data
ClinVar Variation Id:
47474
dbSNP Id:
rs55940667
ExAC:
2:179421698 A / G
gnomAD v2:
2-179421698-A-G
gnomAD v3:
2-178556971-A-G
gnomAD v4:
2-178556971-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178556971A>G , CM000664.2:g.178556971A>G | GRCh38 |
| NC_000002.11:g.179421698A>G , CM000664.1:g.179421698A>G | GRCh37 |
| NC_000002.10:g.179129944A>G | NCBI36 |
| NG_011618.3:g.278832T>C , LRG_391:g.278832T>C | |
| NG_051363.1:g.39145A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80479T>C (TTN) | ENSP00000343764.6:p.Phe26827Leu | |
| ENST00000342175.11:c.61564T>C (TTN) | ENSP00000340554.6:p.Phe20522Leu | |
| ENST00000359218.10:c.61363T>C (TTN) | ENSP00000352154.5:p.Phe20455Leu | |
| ENST00000342175.10:c.61564T>C (TTN) | ENSP00000340554.6:p.Phe20522Leu | |
| ENST00000342992.10:c.80479T>C (TTN) | ENSP00000343764.6:p.Phe26827Leu | |
| ENST00000359218.9:c.61363T>C (TTN) | ENSP00000352154.5:p.Phe20455Leu | |
| ENST00000460472.6:c.60988T>C (TTN) | ENSP00000434586.1:p.Phe20330Leu | |
| ENST00000589042.5:c.88183T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe29395Leu | |
| ENST00000591111.5:c.83260T>C (TTN) | ENSP00000465570.1:p.Phe27754Leu | |
| ENST00000615779.4:c.83260T>C (TTN) | ENSP00000483597.1:p.Phe27754Leu | |
| NM_001256850.1:c.83260T>C (TTN) | NP_001243779.1:p.Phe27754Leu | |
| NM_001267550.2:c.88183T>C (TTN) MANE Select | NP_001254479.2:p.Phe29395Leu | |
| NM_003319.4:c.60988T>C (TTN) | NP_003310.4:p.Phe20330Leu | |
| NM_133378.4:c.80479T>C (TTN) | NP_596869.4:p.Phe26827Leu | |
| NM_133432.3:c.61363T>C (TTN) | NP_597676.3:p.Phe20455Leu | |
| NM_133437.4:c.61564T>C (TTN) | NP_597681.4:p.Phe20522Leu | |
| NR_038271.1:n.447-14329A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+14610A>G (TTN-AS1) | ||
| XM_011511729.1:c.87280T>C (TTN) | XP_011510031.1:p.Phe29094Leu | |
| XM_011511730.1:c.61174T>C (TTN) | XP_011510032.1:p.Phe20392Leu | |
| XM_011511731.1:c.61033T>C (TTN) | XP_011510033.1:p.Phe20345Leu | |
| XM_017004819.1:c.87076T>C (TTN) | XP_016860308.1:p.Phe29026Leu | |
| XM_017004820.1:c.82474T>C (TTN) | XP_016860309.1:p.Phe27492Leu | |
| XM_017004821.1:c.82471T>C (TTN) | XP_016860310.1:p.Phe27491Leu | |
| XM_017004822.1:c.79513T>C (TTN) | XP_016860311.1:p.Phe26505Leu | |
| XM_017004823.1:c.61129T>C (TTN) | XP_016860312.1:p.Phe20377Leu | |
| XM_024453094.1:c.82624T>C (TTN) | XP_024308862.1:p.Phe27542Leu | |
| XM_024453095.1:c.82621T>C (TTN) | XP_024308863.1:p.Phe27541Leu | |
| XM_024453096.1:c.82054T>C (TTN) | XP_024308864.1:p.Phe27352Leu | |
| XM_024453097.1:c.79396T>C (TTN) | XP_024308865.1:p.Phe26466Leu | |
| XM_024453098.1:c.79315T>C (TTN) | XP_024308866.1:p.Phe26439Leu | |
| XM_024453099.1:c.61078T>C (TTN) | XP_024308867.1:p.Phe20360Leu | |
| XM_024453100.1:c.50932T>C (TTN) | XP_024308868.1:p.Phe16978Leu |