Linked Data
ClinVar Variation Id:
202660
ClinVar RCV Id:
RCV000591920
RCV000621855
RCV001082934
RCV001128987
RCV001128984
RCV001128985
RCV001128986
RCV000725808
RCV001128988
RCV004537546
dbSNP Id:
rs201388509
ExAC:
2:179481618 C / G
gnomAD v2:
2-179481618-C-G
gnomAD v3:
2-178616891-C-G
gnomAD v4:
2-178616891-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178616891C>G , CM000664.2:g.178616891C>G | GRCh38 |
| NC_000002.11:g.179481618C>G , CM000664.1:g.179481618C>G | GRCh37 |
| NC_000002.10:g.179189863C>G | NCBI36 |
| NG_011618.3:g.218912G>C , LRG_391:g.218912G>C | |
| NG_051363.1:g.99065C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40294G>C (TTN) | ENSP00000343764.6:p.Asp13432His | |
| ENST00000342175.11:c.21379G>C (TTN) | ENSP00000340554.6:p.Asp7127His | |
| ENST00000359218.10:c.21178G>C (TTN) | ENSP00000352154.5:p.Asp7060His | |
| ENST00000342175.10:c.21379G>C (TTN) | ENSP00000340554.6:p.Asp7127His | |
| ENST00000342992.10:c.40294G>C (TTN) | ENSP00000343764.6:p.Asp13432His | |
| ENST00000359218.9:c.21178G>C (TTN) | ENSP00000352154.5:p.Asp7060His | |
| ENST00000460472.6:c.20803G>C (TTN) | ENSP00000434586.1:p.Asp6935His | |
| ENST00000589042.5:c.47998G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp16000His | |
| ENST00000591111.5:c.43075G>C (TTN) | ENSP00000465570.1:p.Asp14359His | |
| ENST00000615779.4:c.43075G>C (TTN) | ENSP00000483597.1:p.Asp14359His | |
| NM_001256850.1:c.43075G>C (TTN) | NP_001243779.1:p.Asp14359His | |
| NM_001267550.2:c.47998G>C (TTN) MANE Select | NP_001254479.2:p.Asp16000His | |
| NM_003319.4:c.20803G>C (TTN) | NP_003310.4:p.Asp6935His | |
| NM_133378.4:c.40294G>C (TTN) | NP_596869.4:p.Asp13432His | |
| NM_133432.3:c.21178G>C (TTN) | NP_597676.3:p.Asp7060His | |
| NM_133437.4:c.21379G>C (TTN) | NP_597681.4:p.Asp7127His | |
| NR_038271.1:n.1604+1517C>G (TTN-AS1) | ||
| XM_011511729.1:c.47095G>C (TTN) | XP_011510031.1:p.Asp15699His | |
| XM_011511730.1:c.20989G>C (TTN) | XP_011510032.1:p.Asp6997His | |
| XM_011511731.1:c.20848G>C (TTN) | XP_011510033.1:p.Asp6950His | |
| XM_017004819.1:c.46891G>C (TTN) | XP_016860308.1:p.Asp15631His | |
| XM_017004820.1:c.42289G>C (TTN) | XP_016860309.1:p.Asp14097His | |
| XM_017004821.1:c.42286G>C (TTN) | XP_016860310.1:p.Asp14096His | |
| XM_017004822.1:c.39328G>C (TTN) | XP_016860311.1:p.Asp13110His | |
| XM_017004823.1:c.20944G>C (TTN) | XP_016860312.1:p.Asp6982His | |
| XM_024453094.1:c.42439G>C (TTN) | XP_024308862.1:p.Asp14147His | |
| XM_024453095.1:c.42436G>C (TTN) | XP_024308863.1:p.Asp14146His | |
| XM_024453096.1:c.41869G>C (TTN) | XP_024308864.1:p.Asp13957His | |
| XM_024453097.1:c.39211G>C (TTN) | XP_024308865.1:p.Asp13071His | |
| XM_024453098.1:c.39130G>C (TTN) | XP_024308866.1:p.Asp13044His | |
| XM_024453099.1:c.20893G>C (TTN) | XP_024308867.1:p.Asp6965His | |
| XM_024453100.1:c.10747G>C (TTN) | XP_024308868.1:p.Asp3583His |