Linked Data
ClinVar Variation Id:
281972
dbSNP Id:
rs367566671
ExAC:
2:179477577 C / T
gnomAD v2:
2-179477577-C-T
gnomAD v3:
2-178612850-C-T
gnomAD v4:
2-178612850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612850C>T , CM000664.2:g.178612850C>T | GRCh38 |
| NC_000002.11:g.179477577C>T , CM000664.1:g.179477577C>T | GRCh37 |
| NC_000002.10:g.179185822C>T | NCBI36 |
| NG_011618.3:g.222953G>A , LRG_391:g.222953G>A | |
| NG_051363.1:g.95024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42167G>A (TTN) | ENSP00000343764.6:p.Arg14056Gln | |
| ENST00000342175.11:c.23252G>A (TTN) | ENSP00000340554.6:p.Arg7751Gln | |
| ENST00000359218.10:c.23051G>A (TTN) | ENSP00000352154.5:p.Arg7684Gln | |
| ENST00000342175.10:c.23252G>A (TTN) | ENSP00000340554.6:p.Arg7751Gln | |
| ENST00000342992.10:c.42167G>A (TTN) | ENSP00000343764.6:p.Arg14056Gln | |
| ENST00000359218.9:c.23051G>A (TTN) | ENSP00000352154.5:p.Arg7684Gln | |
| ENST00000460472.6:c.22676G>A (TTN) | ENSP00000434586.1:p.Arg7559Gln | |
| ENST00000589042.5:c.49871G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16624Gln | |
| ENST00000591111.5:c.44948G>A (TTN) | ENSP00000465570.1:p.Arg14983Gln | |
| ENST00000615779.4:c.44948G>A (TTN) | ENSP00000483597.1:p.Arg14983Gln | |
| NM_001256850.1:c.44948G>A (TTN) | NP_001243779.1:p.Arg14983Gln | |
| NM_001267550.2:c.49871G>A (TTN) MANE Select | NP_001254479.2:p.Arg16624Gln | |
| NM_003319.4:c.22676G>A (TTN) | NP_003310.4:p.Arg7559Gln | |
| NM_133378.4:c.42167G>A (TTN) | NP_596869.4:p.Arg14056Gln | |
| NM_133432.3:c.23051G>A (TTN) | NP_597676.3:p.Arg7684Gln | |
| NM_133437.4:c.23252G>A (TTN) | NP_597681.4:p.Arg7751Gln | |
| NR_038271.1:n.783-1185C>T (TTN-AS1) | ||
| XM_011511729.1:c.48968G>A (TTN) | XP_011510031.1:p.Arg16323Gln | |
| XM_011511730.1:c.22862G>A (TTN) | XP_011510032.1:p.Arg7621Gln | |
| XM_011511731.1:c.22721G>A (TTN) | XP_011510033.1:p.Arg7574Gln | |
| XM_017004819.1:c.48764G>A (TTN) | XP_016860308.1:p.Arg16255Gln | |
| XM_017004820.1:c.44162G>A (TTN) | XP_016860309.1:p.Arg14721Gln | |
| XM_017004821.1:c.44159G>A (TTN) | XP_016860310.1:p.Arg14720Gln | |
| XM_017004822.1:c.41201G>A (TTN) | XP_016860311.1:p.Arg13734Gln | |
| XM_017004823.1:c.22817G>A (TTN) | XP_016860312.1:p.Arg7606Gln | |
| XM_024453094.1:c.44312G>A (TTN) | XP_024308862.1:p.Arg14771Gln | |
| XM_024453095.1:c.44309G>A (TTN) | XP_024308863.1:p.Arg14770Gln | |
| XM_024453096.1:c.43742G>A (TTN) | XP_024308864.1:p.Arg14581Gln | |
| XM_024453097.1:c.41084G>A (TTN) | XP_024308865.1:p.Arg13695Gln | |
| XM_024453098.1:c.41003G>A (TTN) | XP_024308866.1:p.Arg13668Gln | |
| XM_024453099.1:c.22766G>A (TTN) | XP_024308867.1:p.Arg7589Gln | |
| XM_024453100.1:c.12620G>A (TTN) | XP_024308868.1:p.Arg4207Gln |