Linked Data
ClinVar Variation Id:
47361
ClinVar RCV Id:
RCV000040631
RCV000264343
RCV000324153
RCV000389951
RCV000359085
RCV000360289
RCV000476610
RCV000768918
RCV001081320
RCV002336150
RCV004534929
dbSNP Id:
rs186681106
ExAC:
2:179433046 C / G
gnomAD v2:
2-179433046-C-G
gnomAD v3:
2-178568319-C-G
gnomAD v4:
2-178568319-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568319C>G , CM000664.2:g.178568319C>G | GRCh38 |
| NC_000002.11:g.179433046C>G , CM000664.1:g.179433046C>G | GRCh37 |
| NC_000002.10:g.179141292C>G | NCBI36 |
| NG_011618.3:g.267484G>C , LRG_391:g.267484G>C | |
| NG_051363.1:g.50493C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70109G>C (TTN) | ENSP00000343764.6:p.Trp23370Ser | |
| ENST00000342175.11:c.51194G>C (TTN) | ENSP00000340554.6:p.Trp17065Ser | |
| ENST00000359218.10:c.50993G>C (TTN) | ENSP00000352154.5:p.Trp16998Ser | |
| ENST00000342175.10:c.51194G>C (TTN) | ENSP00000340554.6:p.Trp17065Ser | |
| ENST00000342992.10:c.70109G>C (TTN) | ENSP00000343764.6:p.Trp23370Ser | |
| ENST00000359218.9:c.50993G>C (TTN) | ENSP00000352154.5:p.Trp16998Ser | |
| ENST00000460472.6:c.50618G>C (TTN) | ENSP00000434586.1:p.Trp16873Ser | |
| ENST00000589042.5:c.77813G>C (TTN) MANE Select | ENSP00000467141.1:p.Trp25938Ser | |
| ENST00000591111.5:c.72890G>C (TTN) | ENSP00000465570.1:p.Trp24297Ser | |
| ENST00000615779.4:c.72890G>C (TTN) | ENSP00000483597.1:p.Trp24297Ser | |
| NM_001256850.1:c.72890G>C (TTN) | NP_001243779.1:p.Trp24297Ser | |
| NM_001267550.2:c.77813G>C (TTN) MANE Select | NP_001254479.2:p.Trp25938Ser | |
| NM_003319.4:c.50618G>C (TTN) | NP_003310.4:p.Trp16873Ser | |
| NM_133378.4:c.70109G>C (TTN) | NP_596869.4:p.Trp23370Ser | |
| NM_133432.3:c.50993G>C (TTN) | NP_597676.3:p.Trp16998Ser | |
| NM_133437.4:c.51194G>C (TTN) | NP_597681.4:p.Trp17065Ser | |
| NR_038271.1:n.447-2981C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-14253C>G (TTN-AS1) | ||
| XM_011511729.1:c.76910G>C (TTN) | XP_011510031.1:p.Trp25637Ser | |
| XM_011511730.1:c.50804G>C (TTN) | XP_011510032.1:p.Trp16935Ser | |
| XM_011511731.1:c.50663G>C (TTN) | XP_011510033.1:p.Trp16888Ser | |
| XM_017004819.1:c.76706G>C (TTN) | XP_016860308.1:p.Trp25569Ser | |
| XM_017004820.1:c.72104G>C (TTN) | XP_016860309.1:p.Trp24035Ser | |
| XM_017004821.1:c.72101G>C (TTN) | XP_016860310.1:p.Trp24034Ser | |
| XM_017004822.1:c.69143G>C (TTN) | XP_016860311.1:p.Trp23048Ser | |
| XM_017004823.1:c.50759G>C (TTN) | XP_016860312.1:p.Trp16920Ser | |
| XM_024453094.1:c.72254G>C (TTN) | XP_024308862.1:p.Trp24085Ser | |
| XM_024453095.1:c.72251G>C (TTN) | XP_024308863.1:p.Trp24084Ser | |
| XM_024453096.1:c.71684G>C (TTN) | XP_024308864.1:p.Trp23895Ser | |
| XM_024453097.1:c.69026G>C (TTN) | XP_024308865.1:p.Trp23009Ser | |
| XM_024453098.1:c.68945G>C (TTN) | XP_024308866.1:p.Trp22982Ser | |
| XM_024453099.1:c.50708G>C (TTN) | XP_024308867.1:p.Trp16903Ser | |
| XM_024453100.1:c.40562G>C (TTN) | XP_024308868.1:p.Trp13521Ser |