Linked Data
ClinVar Variation Id:
405029
dbSNP Id:
rs371696090
ExAC:
2:179434829 G / A
gnomAD v2:
2-179434829-G-A
gnomAD v3:
2-178570102-G-A
gnomAD v4:
2-178570102-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570102G>A , CM000664.2:g.178570102G>A | GRCh38 |
| NC_000002.11:g.179434829G>A , CM000664.1:g.179434829G>A | GRCh37 |
| NC_000002.10:g.179143075G>A | NCBI36 |
| NG_011618.3:g.265701C>T , LRG_391:g.265701C>T | |
| NG_051363.1:g.52276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68326C>T (TTN) | ENSP00000343764.6:p.Arg22776Trp | |
| ENST00000342175.11:c.49411C>T (TTN) | ENSP00000340554.6:p.Arg16471Trp | |
| ENST00000359218.10:c.49210C>T (TTN) | ENSP00000352154.5:p.Arg16404Trp | |
| ENST00000342175.10:c.49411C>T (TTN) | ENSP00000340554.6:p.Arg16471Trp | |
| ENST00000342992.10:c.68326C>T (TTN) | ENSP00000343764.6:p.Arg22776Trp | |
| ENST00000359218.9:c.49210C>T (TTN) | ENSP00000352154.5:p.Arg16404Trp | |
| ENST00000460472.6:c.48835C>T (TTN) | ENSP00000434586.1:p.Arg16279Trp | |
| ENST00000589042.5:c.76030C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg25344Trp | |
| ENST00000591111.5:c.71107C>T (TTN) | ENSP00000465570.1:p.Arg23703Trp | |
| ENST00000615779.4:c.71107C>T (TTN) | ENSP00000483597.1:p.Arg23703Trp | |
| NM_001256850.1:c.71107C>T (TTN) | NP_001243779.1:p.Arg23703Trp | |
| NM_001267550.2:c.76030C>T (TTN) MANE Select | NP_001254479.2:p.Arg25344Trp | |
| NM_003319.4:c.48835C>T (TTN) | NP_003310.4:p.Arg16279Trp | |
| NM_133378.4:c.68326C>T (TTN) | NP_596869.4:p.Arg22776Trp | |
| NM_133432.3:c.49210C>T (TTN) | NP_597676.3:p.Arg16404Trp | |
| NM_133437.4:c.49411C>T (TTN) | NP_597681.4:p.Arg16471Trp | |
| NR_038271.1:n.447-1198G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12470G>A (TTN-AS1) | ||
| XM_011511729.1:c.75127C>T (TTN) | XP_011510031.1:p.Arg25043Trp | |
| XM_011511730.1:c.49021C>T (TTN) | XP_011510032.1:p.Arg16341Trp | |
| XM_011511731.1:c.48880C>T (TTN) | XP_011510033.1:p.Arg16294Trp | |
| XM_017004819.1:c.74923C>T (TTN) | XP_016860308.1:p.Arg24975Trp | |
| XM_017004820.1:c.70321C>T (TTN) | XP_016860309.1:p.Arg23441Trp | |
| XM_017004821.1:c.70318C>T (TTN) | XP_016860310.1:p.Arg23440Trp | |
| XM_017004822.1:c.67360C>T (TTN) | XP_016860311.1:p.Arg22454Trp | |
| XM_017004823.1:c.48976C>T (TTN) | XP_016860312.1:p.Arg16326Trp | |
| XM_024453094.1:c.70471C>T (TTN) | XP_024308862.1:p.Arg23491Trp | |
| XM_024453095.1:c.70468C>T (TTN) | XP_024308863.1:p.Arg23490Trp | |
| XM_024453096.1:c.69901C>T (TTN) | XP_024308864.1:p.Arg23301Trp | |
| XM_024453097.1:c.67243C>T (TTN) | XP_024308865.1:p.Arg22415Trp | |
| XM_024453098.1:c.67162C>T (TTN) | XP_024308866.1:p.Arg22388Trp | |
| XM_024453099.1:c.48925C>T (TTN) | XP_024308867.1:p.Arg16309Trp | |
| XM_024453100.1:c.38779C>T (TTN) | XP_024308868.1:p.Arg12927Trp |