Linked Data
ClinVar Variation Id:
466730
dbSNP Id:
rs879243057
gnomAD v2:
2-179396767-G-A
gnomAD v3:
2-178532040-G-A
gnomAD v4:
2-178532040-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532040G>A , CM000664.2:g.178532040G>A | GRCh38 |
| NC_000002.11:g.179396767G>A , CM000664.1:g.179396767G>A | GRCh37 |
| NC_000002.10:g.179105013G>A | NCBI36 |
| NG_011618.3:g.303763C>T , LRG_391:g.303763C>T | |
| NG_051363.1:g.14214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96871C>T (TTN) | ENSP00000343764.6:p.Arg32291Trp | |
| ENST00000342175.11:c.77956C>T (TTN) | ENSP00000340554.6:p.Arg25986Trp | |
| ENST00000359218.10:c.77755C>T (TTN) | ENSP00000352154.5:p.Arg25919Trp | |
| ENST00000342175.10:c.77956C>T (TTN) | ENSP00000340554.6:p.Arg25986Trp | |
| ENST00000342992.10:c.96871C>T (TTN) | ENSP00000343764.6:p.Arg32291Trp | |
| ENST00000359218.9:c.77755C>T (TTN) | ENSP00000352154.5:p.Arg25919Trp | |
| ENST00000460472.6:c.77380C>T (TTN) | ENSP00000434586.1:p.Arg25794Trp | |
| ENST00000589042.5:c.104575C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34859Trp | |
| ENST00000591111.5:c.99652C>T (TTN) | ENSP00000465570.1:p.Arg33218Trp | |
| ENST00000615779.4:c.99652C>T (TTN) | ENSP00000483597.1:p.Arg33218Trp | |
| NM_001256850.1:c.99652C>T (TTN) | NP_001243779.1:p.Arg33218Trp | |
| NM_001267550.2:c.104575C>T (TTN) MANE Select | NP_001254479.2:p.Arg34859Trp | |
| NM_003319.4:c.77380C>T (TTN) | NP_003310.4:p.Arg25794Trp | |
| NM_133378.4:c.96871C>T (TTN) | NP_596869.4:p.Arg32291Trp | |
| NM_133432.3:c.77755C>T (TTN) | NP_597676.3:p.Arg25919Trp | |
| NM_133437.4:c.77956C>T (TTN) | NP_597681.4:p.Arg25986Trp | |
| NR_038271.1:n.446+8404G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3692G>A (TTN-AS1) | ||
| XM_011511729.1:c.103672C>T (TTN) | XP_011510031.1:p.Arg34558Trp | |
| XM_011511730.1:c.77566C>T (TTN) | XP_011510032.1:p.Arg25856Trp | |
| XM_011511731.1:c.77425C>T (TTN) | XP_011510033.1:p.Arg25809Trp | |
| XM_017004819.1:c.103468C>T (TTN) | XP_016860308.1:p.Arg34490Trp | |
| XM_017004820.1:c.98866C>T (TTN) | XP_016860309.1:p.Arg32956Trp | |
| XM_017004821.1:c.98863C>T (TTN) | XP_016860310.1:p.Arg32955Trp | |
| XM_017004822.1:c.95905C>T (TTN) | XP_016860311.1:p.Arg31969Trp | |
| XM_017004823.1:c.77521C>T (TTN) | XP_016860312.1:p.Arg25841Trp | |
| XM_024453094.1:c.99016C>T (TTN) | XP_024308862.1:p.Arg33006Trp | |
| XM_024453095.1:c.99013C>T (TTN) | XP_024308863.1:p.Arg33005Trp | |
| XM_024453096.1:c.98446C>T (TTN) | XP_024308864.1:p.Arg32816Trp | |
| XM_024453097.1:c.95788C>T (TTN) | XP_024308865.1:p.Arg31930Trp | |
| XM_024453098.1:c.95707C>T (TTN) | XP_024308866.1:p.Arg31903Trp | |
| XM_024453099.1:c.77470C>T (TTN) | XP_024308867.1:p.Arg25824Trp | |
| XM_024453100.1:c.67324C>T (TTN) | XP_024308868.1:p.Arg22442Trp |