Linked Data
ClinVar Variation Id:
179043
dbSNP Id:
rs188996850
ExAC:
2:179449557 C / T
gnomAD v2:
2-179449557-C-T
gnomAD v3:
2-178584830-C-T
gnomAD v4:
2-178584830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584830C>T , CM000664.2:g.178584830C>T | GRCh38 |
| NC_000002.11:g.179449557C>T , CM000664.1:g.179449557C>T | GRCh37 |
| NC_000002.10:g.179157803C>T | NCBI36 |
| NG_011618.3:g.250973G>A , LRG_391:g.250973G>A | |
| NG_051363.1:g.67004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57107G>A (TTN) | ENSP00000343764.6:p.Arg19036Gln | |
| ENST00000342175.11:c.38192G>A (TTN) | ENSP00000340554.6:p.Arg12731Gln | |
| ENST00000359218.10:c.37991G>A (TTN) | ENSP00000352154.5:p.Arg12664Gln | |
| ENST00000342175.10:c.38192G>A (TTN) | ENSP00000340554.6:p.Arg12731Gln | |
| ENST00000342992.10:c.57107G>A (TTN) | ENSP00000343764.6:p.Arg19036Gln | |
| ENST00000359218.9:c.37991G>A (TTN) | ENSP00000352154.5:p.Arg12664Gln | |
| ENST00000460472.6:c.37616G>A (TTN) | ENSP00000434586.1:p.Arg12539Gln | |
| ENST00000589042.5:c.64811G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg21604Gln | |
| ENST00000591111.5:c.59888G>A (TTN) | ENSP00000465570.1:p.Arg19963Gln | |
| ENST00000615779.4:c.59888G>A (TTN) | ENSP00000483597.1:p.Arg19963Gln | |
| NM_001256850.1:c.59888G>A (TTN) | NP_001243779.1:p.Arg19963Gln | |
| NM_001267550.2:c.64811G>A (TTN) MANE Select | NP_001254479.2:p.Arg21604Gln | |
| NM_003319.4:c.37616G>A (TTN) | NP_003310.4:p.Arg12539Gln | |
| NM_133378.4:c.57107G>A (TTN) | NP_596869.4:p.Arg19036Gln | |
| NM_133432.3:c.37991G>A (TTN) | NP_597676.3:p.Arg12664Gln | |
| NM_133437.4:c.38192G>A (TTN) | NP_597681.4:p.Arg12731Gln | |
| NR_038271.1:n.597-12766C>T (TTN-AS1) | ||
| NR_038272.1:n.3025C>T (TTN-AS1) | ||
| XM_011511729.1:c.63908G>A (TTN) | XP_011510031.1:p.Arg21303Gln | |
| XM_011511730.1:c.37802G>A (TTN) | XP_011510032.1:p.Arg12601Gln | |
| XM_011511731.1:c.37661G>A (TTN) | XP_011510033.1:p.Arg12554Gln | |
| XM_017004819.1:c.63704G>A (TTN) | XP_016860308.1:p.Arg21235Gln | |
| XM_017004820.1:c.59102G>A (TTN) | XP_016860309.1:p.Arg19701Gln | |
| XM_017004821.1:c.59099G>A (TTN) | XP_016860310.1:p.Arg19700Gln | |
| XM_017004822.1:c.56141G>A (TTN) | XP_016860311.1:p.Arg18714Gln | |
| XM_017004823.1:c.37757G>A (TTN) | XP_016860312.1:p.Arg12586Gln | |
| XM_024453094.1:c.59252G>A (TTN) | XP_024308862.1:p.Arg19751Gln | |
| XM_024453095.1:c.59249G>A (TTN) | XP_024308863.1:p.Arg19750Gln | |
| XM_024453096.1:c.58682G>A (TTN) | XP_024308864.1:p.Arg19561Gln | |
| XM_024453097.1:c.56024G>A (TTN) | XP_024308865.1:p.Arg18675Gln | |
| XM_024453098.1:c.55943G>A (TTN) | XP_024308866.1:p.Arg18648Gln | |
| XM_024453099.1:c.37706G>A (TTN) | XP_024308867.1:p.Arg12569Gln | |
| XM_024453100.1:c.27560G>A (TTN) | XP_024308868.1:p.Arg9187Gln |