Linked Data
ClinVar Variation Id:
332771
ClinVar RCV Id:
RCV000288225
RCV000327544
RCV000333541
RCV000384466
RCV000385670
RCV000467844
RCV000516790
RCV000731987
RCV001798786
RCV002338920
dbSNP Id:
rs534003014
ExAC:
2:179431953 T / G
gnomAD v2:
2-179431953-T-G
gnomAD v3:
2-178567226-T-G
gnomAD v4:
2-178567226-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567226T>G , CM000664.2:g.178567226T>G | GRCh38 |
| NC_000002.11:g.179431953T>G , CM000664.1:g.179431953T>G | GRCh37 |
| NC_000002.10:g.179140199T>G | NCBI36 |
| NG_011618.3:g.268577A>C , LRG_391:g.268577A>C | |
| NG_051363.1:g.49400T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71202A>C (TTN) | ENSP00000343764.6:p.Glu23734Asp | |
| ENST00000342175.11:c.52287A>C (TTN) | ENSP00000340554.6:p.Glu17429Asp | |
| ENST00000359218.10:c.52086A>C (TTN) | ENSP00000352154.5:p.Glu17362Asp | |
| ENST00000342175.10:c.52287A>C (TTN) | ENSP00000340554.6:p.Glu17429Asp | |
| ENST00000342992.10:c.71202A>C (TTN) | ENSP00000343764.6:p.Glu23734Asp | |
| ENST00000359218.9:c.52086A>C (TTN) | ENSP00000352154.5:p.Glu17362Asp | |
| ENST00000460472.6:c.51711A>C (TTN) | ENSP00000434586.1:p.Glu17237Asp | |
| ENST00000589042.5:c.78906A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu26302Asp | |
| ENST00000591111.5:c.73983A>C (TTN) | ENSP00000465570.1:p.Glu24661Asp | |
| ENST00000615779.4:c.73983A>C (TTN) | ENSP00000483597.1:p.Glu24661Asp | |
| NM_001256850.1:c.73983A>C (TTN) | NP_001243779.1:p.Glu24661Asp | |
| NM_001267550.2:c.78906A>C (TTN) MANE Select | NP_001254479.2:p.Glu26302Asp | |
| NM_003319.4:c.51711A>C (TTN) | NP_003310.4:p.Glu17237Asp | |
| NM_133378.4:c.71202A>C (TTN) | NP_596869.4:p.Glu23734Asp | |
| NM_133432.3:c.52086A>C (TTN) | NP_597676.3:p.Glu17362Asp | |
| NM_133437.4:c.52287A>C (TTN) | NP_597681.4:p.Glu17429Asp | |
| NR_038271.1:n.447-4074T>G (TTN-AS1) | ||
| NR_038272.1:n.2044-15346T>G (TTN-AS1) | ||
| XM_011511729.1:c.78003A>C (TTN) | XP_011510031.1:p.Glu26001Asp | |
| XM_011511730.1:c.51897A>C (TTN) | XP_011510032.1:p.Glu17299Asp | |
| XM_011511731.1:c.51756A>C (TTN) | XP_011510033.1:p.Glu17252Asp | |
| XM_017004819.1:c.77799A>C (TTN) | XP_016860308.1:p.Glu25933Asp | |
| XM_017004820.1:c.73197A>C (TTN) | XP_016860309.1:p.Glu24399Asp | |
| XM_017004821.1:c.73194A>C (TTN) | XP_016860310.1:p.Glu24398Asp | |
| XM_017004822.1:c.70236A>C (TTN) | XP_016860311.1:p.Glu23412Asp | |
| XM_017004823.1:c.51852A>C (TTN) | XP_016860312.1:p.Glu17284Asp | |
| XM_024453094.1:c.73347A>C (TTN) | XP_024308862.1:p.Glu24449Asp | |
| XM_024453095.1:c.73344A>C (TTN) | XP_024308863.1:p.Glu24448Asp | |
| XM_024453096.1:c.72777A>C (TTN) | XP_024308864.1:p.Glu24259Asp | |
| XM_024453097.1:c.70119A>C (TTN) | XP_024308865.1:p.Glu23373Asp | |
| XM_024453098.1:c.70038A>C (TTN) | XP_024308866.1:p.Glu23346Asp | |
| XM_024453099.1:c.51801A>C (TTN) | XP_024308867.1:p.Glu17267Asp | |
| XM_024453100.1:c.41655A>C (TTN) | XP_024308868.1:p.Glu13885Asp |