Linked Data
ClinVar Variation Id:
498278
dbSNP Id:
rs1419374180
gnomAD v2:
2-179431880-G-A
gnomAD v3:
2-178567153-G-A
gnomAD v4:
2-178567153-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567153G>A , CM000664.2:g.178567153G>A | GRCh38 |
| NC_000002.11:g.179431880G>A , CM000664.1:g.179431880G>A | GRCh37 |
| NC_000002.10:g.179140126G>A | NCBI36 |
| NG_011618.3:g.268650C>T , LRG_391:g.268650C>T | |
| NG_051363.1:g.49327G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71275C>T (TTN) | ENSP00000343764.6:p.Arg23759Ter | |
| ENST00000342175.11:c.52360C>T (TTN) | ENSP00000340554.6:p.Arg17454Ter | |
| ENST00000359218.10:c.52159C>T (TTN) | ENSP00000352154.5:p.Arg17387Ter | |
| ENST00000342175.10:c.52360C>T (TTN) | ENSP00000340554.6:p.Arg17454Ter | |
| ENST00000342992.10:c.71275C>T (TTN) | ENSP00000343764.6:p.Arg23759Ter | |
| ENST00000359218.9:c.52159C>T (TTN) | ENSP00000352154.5:p.Arg17387Ter | |
| ENST00000460472.6:c.51784C>T (TTN) | ENSP00000434586.1:p.Arg17262Ter | |
| ENST00000589042.5:c.78979C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg26327Ter | |
| ENST00000591111.5:c.74056C>T (TTN) | ENSP00000465570.1:p.Arg24686Ter | |
| ENST00000615779.4:c.74056C>T (TTN) | ENSP00000483597.1:p.Arg24686Ter | |
| NM_001256850.1:c.74056C>T (TTN) | NP_001243779.1:p.Arg24686Ter | |
| NM_001267550.2:c.78979C>T (TTN) MANE Select | NP_001254479.2:p.Arg26327Ter | |
| NM_003319.4:c.51784C>T (TTN) | NP_003310.4:p.Arg17262Ter | |
| NM_133378.4:c.71275C>T (TTN) | NP_596869.4:p.Arg23759Ter | |
| NM_133432.3:c.52159C>T (TTN) | NP_597676.3:p.Arg17387Ter | |
| NM_133437.4:c.52360C>T (TTN) | NP_597681.4:p.Arg17454Ter | |
| NR_038271.1:n.447-4147G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-15419G>A (TTN-AS1) | ||
| XM_011511729.1:c.78076C>T (TTN) | XP_011510031.1:p.Arg26026Ter | |
| XM_011511730.1:c.51970C>T (TTN) | XP_011510032.1:p.Arg17324Ter | |
| XM_011511731.1:c.51829C>T (TTN) | XP_011510033.1:p.Arg17277Ter | |
| XM_017004819.1:c.77872C>T (TTN) | XP_016860308.1:p.Arg25958Ter | |
| XM_017004820.1:c.73270C>T (TTN) | XP_016860309.1:p.Arg24424Ter | |
| XM_017004821.1:c.73267C>T (TTN) | XP_016860310.1:p.Arg24423Ter | |
| XM_017004822.1:c.70309C>T (TTN) | XP_016860311.1:p.Arg23437Ter | |
| XM_017004823.1:c.51925C>T (TTN) | XP_016860312.1:p.Arg17309Ter | |
| XM_024453094.1:c.73420C>T (TTN) | XP_024308862.1:p.Arg24474Ter | |
| XM_024453095.1:c.73417C>T (TTN) | XP_024308863.1:p.Arg24473Ter | |
| XM_024453096.1:c.72850C>T (TTN) | XP_024308864.1:p.Arg24284Ter | |
| XM_024453097.1:c.70192C>T (TTN) | XP_024308865.1:p.Arg23398Ter | |
| XM_024453098.1:c.70111C>T (TTN) | XP_024308866.1:p.Arg23371Ter | |
| XM_024453099.1:c.51874C>T (TTN) | XP_024308867.1:p.Arg17292Ter | |
| XM_024453100.1:c.41728C>T (TTN) | XP_024308868.1:p.Arg13910Ter |