Linked Data
ClinVar Variation Id:
202379
dbSNP Id:
rs754866489
ExAC:
2:179476842 G / A
gnomAD v2:
2-179476842-G-A
gnomAD v4:
2-178612115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612115G>A , CM000664.2:g.178612115G>A | GRCh38 |
| NC_000002.11:g.179476842G>A , CM000664.1:g.179476842G>A | GRCh37 |
| NC_000002.10:g.179185087G>A | NCBI36 |
| NG_011618.3:g.223688C>T , LRG_391:g.223688C>T | |
| NG_051363.1:g.94289G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42592C>T (TTN) | ENSP00000343764.6:p.Arg14198Ter | |
| ENST00000342175.11:c.23677C>T (TTN) | ENSP00000340554.6:p.Arg7893Ter | |
| ENST00000359218.10:c.23476C>T (TTN) | ENSP00000352154.5:p.Arg7826Ter | |
| ENST00000342175.10:c.23677C>T (TTN) | ENSP00000340554.6:p.Arg7893Ter | |
| ENST00000342992.10:c.42592C>T (TTN) | ENSP00000343764.6:p.Arg14198Ter | |
| ENST00000359218.9:c.23476C>T (TTN) | ENSP00000352154.5:p.Arg7826Ter | |
| ENST00000460472.6:c.23101C>T (TTN) | ENSP00000434586.1:p.Arg7701Ter | |
| ENST00000589042.5:c.50296C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg16766Ter | |
| ENST00000591111.5:c.45373C>T (TTN) | ENSP00000465570.1:p.Arg15125Ter | |
| ENST00000615779.4:c.45373C>T (TTN) | ENSP00000483597.1:p.Arg15125Ter | |
| NM_001256850.1:c.45373C>T (TTN) | NP_001243779.1:p.Arg15125Ter | |
| NM_001267550.2:c.50296C>T (TTN) MANE Select | NP_001254479.2:p.Arg16766Ter | |
| NM_003319.4:c.23101C>T (TTN) | NP_003310.4:p.Arg7701Ter | |
| NM_133378.4:c.42592C>T (TTN) | NP_596869.4:p.Arg14198Ter | |
| NM_133432.3:c.23476C>T (TTN) | NP_597676.3:p.Arg7826Ter | |
| NM_133437.4:c.23677C>T (TTN) | NP_597681.4:p.Arg7893Ter | |
| NR_038271.1:n.783-1920G>A (TTN-AS1) | ||
| XM_011511729.1:c.49393C>T (TTN) | XP_011510031.1:p.Arg16465Ter | |
| XM_011511730.1:c.23287C>T (TTN) | XP_011510032.1:p.Arg7763Ter | |
| XM_011511731.1:c.23146C>T (TTN) | XP_011510033.1:p.Arg7716Ter | |
| XM_017004819.1:c.49189C>T (TTN) | XP_016860308.1:p.Arg16397Ter | |
| XM_017004820.1:c.44587C>T (TTN) | XP_016860309.1:p.Arg14863Ter | |
| XM_017004821.1:c.44584C>T (TTN) | XP_016860310.1:p.Arg14862Ter | |
| XM_017004822.1:c.41626C>T (TTN) | XP_016860311.1:p.Arg13876Ter | |
| XM_017004823.1:c.23242C>T (TTN) | XP_016860312.1:p.Arg7748Ter | |
| XM_024453094.1:c.44737C>T (TTN) | XP_024308862.1:p.Arg14913Ter | |
| XM_024453095.1:c.44734C>T (TTN) | XP_024308863.1:p.Arg14912Ter | |
| XM_024453096.1:c.44167C>T (TTN) | XP_024308864.1:p.Arg14723Ter | |
| XM_024453097.1:c.41509C>T (TTN) | XP_024308865.1:p.Arg13837Ter | |
| XM_024453098.1:c.41428C>T (TTN) | XP_024308866.1:p.Arg13810Ter | |
| XM_024453099.1:c.23191C>T (TTN) | XP_024308867.1:p.Arg7731Ter | |
| XM_024453100.1:c.13045C>T (TTN) | XP_024308868.1:p.Arg4349Ter |