Linked Data
ClinVar Variation Id:
47163
ClinVar RCV Id:
RCV000040433
RCV000172653
RCV000286181
RCV000280109
RCV000337757
RCV000343483
RCV000396846
RCV001086697
RCV002222151
RCV001171297
RCV002321530
RCV004534913
dbSNP Id:
rs200212521
ExAC:
2:179455731 C / G
gnomAD v2:
2-179455731-C-G
gnomAD v3:
2-178591004-C-G
gnomAD v4:
2-178591004-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591004C>G , CM000664.2:g.178591004C>G | GRCh38 |
| NC_000002.11:g.179455731C>G , CM000664.1:g.179455731C>G | GRCh37 |
| NC_000002.10:g.179163977C>G | NCBI36 |
| NG_011618.3:g.244799G>C , LRG_391:g.244799G>C | |
| NG_051363.1:g.73178C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53017G>C (TTN) | ENSP00000343764.6:p.Glu17673Gln | |
| ENST00000342175.11:c.34102G>C (TTN) | ENSP00000340554.6:p.Glu11368Gln | |
| ENST00000359218.10:c.33901G>C (TTN) | ENSP00000352154.5:p.Glu11301Gln | |
| ENST00000342175.10:c.34102G>C (TTN) | ENSP00000340554.6:p.Glu11368Gln | |
| ENST00000342992.10:c.53017G>C (TTN) | ENSP00000343764.6:p.Glu17673Gln | |
| ENST00000359218.9:c.33901G>C (TTN) | ENSP00000352154.5:p.Glu11301Gln | |
| ENST00000460472.6:c.33526G>C (TTN) | ENSP00000434586.1:p.Glu11176Gln | |
| ENST00000589042.5:c.60721G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu20241Gln | |
| ENST00000591111.5:c.55798G>C (TTN) | ENSP00000465570.1:p.Glu18600Gln | |
| ENST00000615779.4:c.55798G>C (TTN) | ENSP00000483597.1:p.Glu18600Gln | |
| NM_001256850.1:c.55798G>C (TTN) | NP_001243779.1:p.Glu18600Gln | |
| NM_001267550.2:c.60721G>C (TTN) MANE Select | NP_001254479.2:p.Glu20241Gln | |
| NM_003319.4:c.33526G>C (TTN) | NP_003310.4:p.Glu11176Gln | |
| NM_133378.4:c.53017G>C (TTN) | NP_596869.4:p.Glu17673Gln | |
| NM_133432.3:c.33901G>C (TTN) | NP_597676.3:p.Glu11301Gln | |
| NM_133437.4:c.34102G>C (TTN) | NP_597681.4:p.Glu11368Gln | |
| NR_038271.1:n.597-6592C>G (TTN-AS1) | ||
| NR_038272.1:n.3189-135C>G (TTN-AS1) | ||
| XM_011511729.1:c.59818G>C (TTN) | XP_011510031.1:p.Glu19940Gln | |
| XM_011511730.1:c.33712G>C (TTN) | XP_011510032.1:p.Glu11238Gln | |
| XM_011511731.1:c.33571G>C (TTN) | XP_011510033.1:p.Glu11191Gln | |
| XM_017004819.1:c.59614G>C (TTN) | XP_016860308.1:p.Glu19872Gln | |
| XM_017004820.1:c.55012G>C (TTN) | XP_016860309.1:p.Glu18338Gln | |
| XM_017004821.1:c.55009G>C (TTN) | XP_016860310.1:p.Glu18337Gln | |
| XM_017004822.1:c.52051G>C (TTN) | XP_016860311.1:p.Glu17351Gln | |
| XM_017004823.1:c.33667G>C (TTN) | XP_016860312.1:p.Glu11223Gln | |
| XM_024453094.1:c.55162G>C (TTN) | XP_024308862.1:p.Glu18388Gln | |
| XM_024453095.1:c.55159G>C (TTN) | XP_024308863.1:p.Glu18387Gln | |
| XM_024453096.1:c.54592G>C (TTN) | XP_024308864.1:p.Glu18198Gln | |
| XM_024453097.1:c.51934G>C (TTN) | XP_024308865.1:p.Glu17312Gln | |
| XM_024453098.1:c.51853G>C (TTN) | XP_024308866.1:p.Glu17285Gln | |
| XM_024453099.1:c.33616G>C (TTN) | XP_024308867.1:p.Glu11206Gln | |
| XM_024453100.1:c.23470G>C (TTN) | XP_024308868.1:p.Glu7824Gln |