Linked Data
ClinVar Variation Id:
332852
dbSNP Id:
rs780824428
ExAC:
2:179481592 C / A
gnomAD v2:
2-179481592-C-A
gnomAD v4:
2-178616865-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178616865C>A , CM000664.2:g.178616865C>A | GRCh38 |
| NC_000002.11:g.179481592C>A , CM000664.1:g.179481592C>A | GRCh37 |
| NC_000002.10:g.179189837C>A | NCBI36 |
| NG_011618.3:g.218938G>T , LRG_391:g.218938G>T | |
| NG_051363.1:g.99039C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40320G>T (TTN) | ENSP00000343764.6:p.Arg13440= | |
| ENST00000342175.11:c.21405G>T (TTN) | ENSP00000340554.6:p.Arg7135= | |
| ENST00000359218.10:c.21204G>T (TTN) | ENSP00000352154.5:p.Arg7068= | |
| ENST00000342175.10:c.21405G>T (TTN) | ENSP00000340554.6:p.Arg7135= | |
| ENST00000342992.10:c.40320G>T (TTN) | ENSP00000343764.6:p.Arg13440= | |
| ENST00000359218.9:c.21204G>T (TTN) | ENSP00000352154.5:p.Arg7068= | |
| ENST00000460472.6:c.20829G>T (TTN) | ENSP00000434586.1:p.Arg6943= | |
| ENST00000589042.5:c.48024G>T (TTN) MANE Select | ENSP00000467141.1:p.Arg16008= | |
| ENST00000591111.5:c.43101G>T (TTN) | ENSP00000465570.1:p.Arg14367= | |
| ENST00000615779.4:c.43101G>T (TTN) | ENSP00000483597.1:p.Arg14367= | |
| NM_001256850.1:c.43101G>T (TTN) | NP_001243779.1:p.Arg14367= | |
| NM_001267550.2:c.48024G>T (TTN) MANE Select | NP_001254479.2:p.Arg16008= | |
| NM_003319.4:c.20829G>T (TTN) | NP_003310.4:p.Arg6943= | |
| NM_133378.4:c.40320G>T (TTN) | NP_596869.4:p.Arg13440= | |
| NM_133432.3:c.21204G>T (TTN) | NP_597676.3:p.Arg7068= | |
| NM_133437.4:c.21405G>T (TTN) | NP_597681.4:p.Arg7135= | |
| NR_038271.1:n.1604+1491C>A (TTN-AS1) | ||
| XM_011511729.1:c.47121G>T (TTN) | XP_011510031.1:p.Arg15707= | |
| XM_011511730.1:c.21015G>T (TTN) | XP_011510032.1:p.Arg7005= | |
| XM_011511731.1:c.20874G>T (TTN) | XP_011510033.1:p.Arg6958= | |
| XM_017004819.1:c.46917G>T (TTN) | XP_016860308.1:p.Arg15639= | |
| XM_017004820.1:c.42315G>T (TTN) | XP_016860309.1:p.Arg14105= | |
| XM_017004821.1:c.42312G>T (TTN) | XP_016860310.1:p.Arg14104= | |
| XM_017004822.1:c.39354G>T (TTN) | XP_016860311.1:p.Arg13118= | |
| XM_017004823.1:c.20970G>T (TTN) | XP_016860312.1:p.Arg6990= | |
| XM_024453094.1:c.42465G>T (TTN) | XP_024308862.1:p.Arg14155= | |
| XM_024453095.1:c.42462G>T (TTN) | XP_024308863.1:p.Arg14154= | |
| XM_024453096.1:c.41895G>T (TTN) | XP_024308864.1:p.Arg13965= | |
| XM_024453097.1:c.39237G>T (TTN) | XP_024308865.1:p.Arg13079= | |
| XM_024453098.1:c.39156G>T (TTN) | XP_024308866.1:p.Arg13052= | |
| XM_024453099.1:c.20919G>T (TTN) | XP_024308867.1:p.Arg6973= | |
| XM_024453100.1:c.10773G>T (TTN) | XP_024308868.1:p.Arg3591= |