Linked Data
ClinVar Variation Id:
47121
dbSNP Id:
rs72646831
gnomAD v2:
2-179462478-G-A
gnomAD v4:
2-178597751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597751G>A , CM000664.2:g.178597751G>A | GRCh38 |
| NC_000002.11:g.179462478G>A , CM000664.1:g.179462478G>A | GRCh37 |
| NC_000002.10:g.179170723G>A | NCBI36 |
| NG_011618.3:g.238052C>T , LRG_391:g.238052C>T | |
| NG_051363.1:g.79925G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.49627C>T (TTN) | ENSP00000343764.6:p.Arg16543Ter | |
| ENST00000342175.11:c.30712C>T (TTN) | ENSP00000340554.6:p.Arg10238Ter | |
| ENST00000359218.10:c.30511C>T (TTN) | ENSP00000352154.5:p.Arg10171Ter | |
| ENST00000342175.10:c.30712C>T (TTN) | ENSP00000340554.6:p.Arg10238Ter | |
| ENST00000342992.10:c.49627C>T (TTN) | ENSP00000343764.6:p.Arg16543Ter | |
| ENST00000359218.9:c.30511C>T (TTN) | ENSP00000352154.5:p.Arg10171Ter | |
| ENST00000460472.6:c.30136C>T (TTN) | ENSP00000434586.1:p.Arg10046Ter | |
| ENST00000589042.5:c.57331C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg19111Ter | |
| ENST00000591111.5:c.52408C>T (TTN) | ENSP00000465570.1:p.Arg17470Ter | |
| ENST00000615779.4:c.52408C>T (TTN) | ENSP00000483597.1:p.Arg17470Ter | |
| NM_001256850.1:c.52408C>T (TTN) | NP_001243779.1:p.Arg17470Ter | |
| NM_001267550.2:c.57331C>T (TTN) MANE Select | NP_001254479.2:p.Arg19111Ter | |
| NM_003319.4:c.30136C>T (TTN) | NP_003310.4:p.Arg10046Ter | |
| NM_133378.4:c.49627C>T (TTN) | NP_596869.4:p.Arg16543Ter | |
| NM_133432.3:c.30511C>T (TTN) | NP_597676.3:p.Arg10171Ter | |
| NM_133437.4:c.30712C>T (TTN) | NP_597681.4:p.Arg10238Ter | |
| NR_038271.1:n.682+70G>A (TTN-AS1) | ||
| NR_038272.1:n.3450+70G>A (TTN-AS1) | ||
| XM_011511729.1:c.56428C>T (TTN) | XP_011510031.1:p.Arg18810Ter | |
| XM_011511730.1:c.30322C>T (TTN) | XP_011510032.1:p.Arg10108Ter | |
| XM_011511731.1:c.30181C>T (TTN) | XP_011510033.1:p.Arg10061Ter | |
| XM_017004819.1:c.56224C>T (TTN) | XP_016860308.1:p.Arg18742Ter | |
| XM_017004820.1:c.51622C>T (TTN) | XP_016860309.1:p.Arg17208Ter | |
| XM_017004821.1:c.51619C>T (TTN) | XP_016860310.1:p.Arg17207Ter | |
| XM_017004822.1:c.48661C>T (TTN) | XP_016860311.1:p.Arg16221Ter | |
| XM_017004823.1:c.30277C>T (TTN) | XP_016860312.1:p.Arg10093Ter | |
| XM_024453094.1:c.51772C>T (TTN) | XP_024308862.1:p.Arg17258Ter | |
| XM_024453095.1:c.51769C>T (TTN) | XP_024308863.1:p.Arg17257Ter | |
| XM_024453096.1:c.51202C>T (TTN) | XP_024308864.1:p.Arg17068Ter | |
| XM_024453097.1:c.48544C>T (TTN) | XP_024308865.1:p.Arg16182Ter | |
| XM_024453098.1:c.48463C>T (TTN) | XP_024308866.1:p.Arg16155Ter | |
| XM_024453099.1:c.30226C>T (TTN) | XP_024308867.1:p.Arg10076Ter | |
| XM_024453100.1:c.20080C>T (TTN) | XP_024308868.1:p.Arg6694Ter |