Linked Data
ClinVar Variation Id:
332755
ClinVar RCV Id:
RCV000267737
RCV000268849
RCV000322601
RCV000328564
RCV000363314
RCV000554942
RCV001170782
RCV001565800
dbSNP Id:
rs371788070
ExAC:
2:179427578 C / G
gnomAD v2:
2-179427578-C-G
gnomAD v3:
2-178562851-C-G
gnomAD v4:
2-178562851-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562851C>G , CM000664.2:g.178562851C>G | GRCh38 |
| NC_000002.11:g.179427578C>G , CM000664.1:g.179427578C>G | GRCh37 |
| NC_000002.10:g.179135824C>G | NCBI36 |
| NG_011618.3:g.272952G>C , LRG_391:g.272952G>C | |
| NG_051363.1:g.45025C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75577G>C (TTN) | ENSP00000343764.6:p.Val25193Leu | |
| ENST00000342175.11:c.56662G>C (TTN) | ENSP00000340554.6:p.Val18888Leu | |
| ENST00000359218.10:c.56461G>C (TTN) | ENSP00000352154.5:p.Val18821Leu | |
| ENST00000342175.10:c.56662G>C (TTN) | ENSP00000340554.6:p.Val18888Leu | |
| ENST00000342992.10:c.75577G>C (TTN) | ENSP00000343764.6:p.Val25193Leu | |
| ENST00000359218.9:c.56461G>C (TTN) | ENSP00000352154.5:p.Val18821Leu | |
| ENST00000460472.6:c.56086G>C (TTN) | ENSP00000434586.1:p.Val18696Leu | |
| ENST00000589042.5:c.83281G>C (TTN) MANE Select | ENSP00000467141.1:p.Val27761Leu | |
| ENST00000591111.5:c.78358G>C (TTN) | ENSP00000465570.1:p.Val26120Leu | |
| ENST00000615779.4:c.78358G>C (TTN) | ENSP00000483597.1:p.Val26120Leu | |
| NM_001256850.1:c.78358G>C (TTN) | NP_001243779.1:p.Val26120Leu | |
| NM_001267550.2:c.83281G>C (TTN) MANE Select | NP_001254479.2:p.Val27761Leu | |
| NM_003319.4:c.56086G>C (TTN) | NP_003310.4:p.Val18696Leu | |
| NM_133378.4:c.75577G>C (TTN) | NP_596869.4:p.Val25193Leu | |
| NM_133432.3:c.56461G>C (TTN) | NP_597676.3:p.Val18821Leu | |
| NM_133437.4:c.56662G>C (TTN) | NP_597681.4:p.Val18888Leu | |
| NR_038271.1:n.447-8449C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-19721C>G (TTN-AS1) | ||
| XM_011511729.1:c.82378G>C (TTN) | XP_011510031.1:p.Val27460Leu | |
| XM_011511730.1:c.56272G>C (TTN) | XP_011510032.1:p.Val18758Leu | |
| XM_011511731.1:c.56131G>C (TTN) | XP_011510033.1:p.Val18711Leu | |
| XM_017004819.1:c.82174G>C (TTN) | XP_016860308.1:p.Val27392Leu | |
| XM_017004820.1:c.77572G>C (TTN) | XP_016860309.1:p.Val25858Leu | |
| XM_017004821.1:c.77569G>C (TTN) | XP_016860310.1:p.Val25857Leu | |
| XM_017004822.1:c.74611G>C (TTN) | XP_016860311.1:p.Val24871Leu | |
| XM_017004823.1:c.56227G>C (TTN) | XP_016860312.1:p.Val18743Leu | |
| XM_024453094.1:c.77722G>C (TTN) | XP_024308862.1:p.Val25908Leu | |
| XM_024453095.1:c.77719G>C (TTN) | XP_024308863.1:p.Val25907Leu | |
| XM_024453096.1:c.77152G>C (TTN) | XP_024308864.1:p.Val25718Leu | |
| XM_024453097.1:c.74494G>C (TTN) | XP_024308865.1:p.Val24832Leu | |
| XM_024453098.1:c.74413G>C (TTN) | XP_024308866.1:p.Val24805Leu | |
| XM_024453099.1:c.56176G>C (TTN) | XP_024308867.1:p.Val18726Leu | |
| XM_024453100.1:c.46030G>C (TTN) | XP_024308868.1:p.Val15344Leu |