Linked Data
ClinVar Variation Id:
165761
dbSNP Id:
rs200639218
ExAC:
2:179418820 C / T
gnomAD v2:
2-179418820-C-T
gnomAD v3:
2-178554093-C-T
gnomAD v4:
2-178554093-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554093C>T , CM000664.2:g.178554093C>T | GRCh38 |
| NC_000002.11:g.179418820C>T , CM000664.1:g.179418820C>T | GRCh37 |
| NC_000002.10:g.179127066C>T | NCBI36 |
| NG_011618.3:g.281710G>A , LRG_391:g.281710G>A | |
| NG_051363.1:g.36267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81314G>A (TTN) | ENSP00000343764.6:p.Arg27105Gln | |
| ENST00000342175.11:c.62399G>A (TTN) | ENSP00000340554.6:p.Arg20800Gln | |
| ENST00000359218.10:c.62198G>A (TTN) | ENSP00000352154.5:p.Arg20733Gln | |
| ENST00000342175.10:c.62399G>A (TTN) | ENSP00000340554.6:p.Arg20800Gln | |
| ENST00000342992.10:c.81314G>A (TTN) | ENSP00000343764.6:p.Arg27105Gln | |
| ENST00000359218.9:c.62198G>A (TTN) | ENSP00000352154.5:p.Arg20733Gln | |
| ENST00000460472.6:c.61823G>A (TTN) | ENSP00000434586.1:p.Arg20608Gln | |
| ENST00000589042.5:c.89018G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg29673Gln | |
| ENST00000591111.5:c.84095G>A (TTN) | ENSP00000465570.1:p.Arg28032Gln | |
| ENST00000615779.4:c.84095G>A (TTN) | ENSP00000483597.1:p.Arg28032Gln | |
| NM_001256850.1:c.84095G>A (TTN) | NP_001243779.1:p.Arg28032Gln | |
| NM_001267550.2:c.89018G>A (TTN) MANE Select | NP_001254479.2:p.Arg29673Gln | |
| NM_003319.4:c.61823G>A (TTN) | NP_003310.4:p.Arg20608Gln | |
| NM_133378.4:c.81314G>A (TTN) | NP_596869.4:p.Arg27105Gln | |
| NM_133432.3:c.62198G>A (TTN) | NP_597676.3:p.Arg20733Gln | |
| NM_133437.4:c.62399G>A (TTN) | NP_597681.4:p.Arg20800Gln | |
| NR_038271.1:n.447-17207C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+11732C>T (TTN-AS1) | ||
| XM_011511729.1:c.88115G>A (TTN) | XP_011510031.1:p.Arg29372Gln | |
| XM_011511730.1:c.62009G>A (TTN) | XP_011510032.1:p.Arg20670Gln | |
| XM_011511731.1:c.61868G>A (TTN) | XP_011510033.1:p.Arg20623Gln | |
| XM_017004819.1:c.87911G>A (TTN) | XP_016860308.1:p.Arg29304Gln | |
| XM_017004820.1:c.83309G>A (TTN) | XP_016860309.1:p.Arg27770Gln | |
| XM_017004821.1:c.83306G>A (TTN) | XP_016860310.1:p.Arg27769Gln | |
| XM_017004822.1:c.80348G>A (TTN) | XP_016860311.1:p.Arg26783Gln | |
| XM_017004823.1:c.61964G>A (TTN) | XP_016860312.1:p.Arg20655Gln | |
| XM_024453094.1:c.83459G>A (TTN) | XP_024308862.1:p.Arg27820Gln | |
| XM_024453095.1:c.83456G>A (TTN) | XP_024308863.1:p.Arg27819Gln | |
| XM_024453096.1:c.82889G>A (TTN) | XP_024308864.1:p.Arg27630Gln | |
| XM_024453097.1:c.80231G>A (TTN) | XP_024308865.1:p.Arg26744Gln | |
| XM_024453098.1:c.80150G>A (TTN) | XP_024308866.1:p.Arg26717Gln | |
| XM_024453099.1:c.61913G>A (TTN) | XP_024308867.1:p.Arg20638Gln | |
| XM_024453100.1:c.51767G>A (TTN) | XP_024308868.1:p.Arg17256Gln |