Linked Data
ClinVar Variation Id:
203087
dbSNP Id:
rs765030518
ExAC:
2:179396389 T / C
gnomAD v2:
2-179396389-T-C
gnomAD v4:
2-178531662-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531662T>C , CM000664.2:g.178531662T>C | GRCh38 |
| NC_000002.11:g.179396389T>C , CM000664.1:g.179396389T>C | GRCh37 |
| NC_000002.10:g.179104635T>C | NCBI36 |
| NG_011618.3:g.304141A>G , LRG_391:g.304141A>G | |
| NG_051363.1:g.13836T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97249A>G (TTN) | ENSP00000343764.6:p.Ser32417Gly | |
| ENST00000342175.11:c.78334A>G (TTN) | ENSP00000340554.6:p.Ser26112Gly | |
| ENST00000359218.10:c.78133A>G (TTN) | ENSP00000352154.5:p.Ser26045Gly | |
| ENST00000342175.10:c.78334A>G (TTN) | ENSP00000340554.6:p.Ser26112Gly | |
| ENST00000342992.10:c.97249A>G (TTN) | ENSP00000343764.6:p.Ser32417Gly | |
| ENST00000359218.9:c.78133A>G (TTN) | ENSP00000352154.5:p.Ser26045Gly | |
| ENST00000460472.6:c.77758A>G (TTN) | ENSP00000434586.1:p.Ser25920Gly | |
| ENST00000589042.5:c.104953A>G (TTN) MANE Select | ENSP00000467141.1:p.Ser34985Gly | |
| ENST00000591111.5:c.100030A>G (TTN) | ENSP00000465570.1:p.Ser33344Gly | |
| ENST00000615779.4:c.100030A>G (TTN) | ENSP00000483597.1:p.Ser33344Gly | |
| NM_001256850.1:c.100030A>G (TTN) | NP_001243779.1:p.Ser33344Gly | |
| NM_001267550.2:c.104953A>G (TTN) MANE Select | NP_001254479.2:p.Ser34985Gly | |
| NM_003319.4:c.77758A>G (TTN) | NP_003310.4:p.Ser25920Gly | |
| NM_133378.4:c.97249A>G (TTN) | NP_596869.4:p.Ser32417Gly | |
| NM_133432.3:c.78133A>G (TTN) | NP_597676.3:p.Ser26045Gly | |
| NM_133437.4:c.78334A>G (TTN) | NP_597681.4:p.Ser26112Gly | |
| NR_038271.1:n.446+8026T>C (TTN-AS1) | ||
| NR_038272.1:n.220-4070T>C (TTN-AS1) | ||
| XM_011511729.1:c.104050A>G (TTN) | XP_011510031.1:p.Ser34684Gly | |
| XM_011511730.1:c.77944A>G (TTN) | XP_011510032.1:p.Ser25982Gly | |
| XM_011511731.1:c.77803A>G (TTN) | XP_011510033.1:p.Ser25935Gly | |
| XM_017004819.1:c.103846A>G (TTN) | XP_016860308.1:p.Ser34616Gly | |
| XM_017004820.1:c.99244A>G (TTN) | XP_016860309.1:p.Ser33082Gly | |
| XM_017004821.1:c.99241A>G (TTN) | XP_016860310.1:p.Ser33081Gly | |
| XM_017004822.1:c.96283A>G (TTN) | XP_016860311.1:p.Ser32095Gly | |
| XM_017004823.1:c.77899A>G (TTN) | XP_016860312.1:p.Ser25967Gly | |
| XM_024453094.1:c.99394A>G (TTN) | XP_024308862.1:p.Ser33132Gly | |
| XM_024453095.1:c.99391A>G (TTN) | XP_024308863.1:p.Ser33131Gly | |
| XM_024453096.1:c.98824A>G (TTN) | XP_024308864.1:p.Ser32942Gly | |
| XM_024453097.1:c.96166A>G (TTN) | XP_024308865.1:p.Ser32056Gly | |
| XM_024453098.1:c.96085A>G (TTN) | XP_024308866.1:p.Ser32029Gly | |
| XM_024453099.1:c.77848A>G (TTN) | XP_024308867.1:p.Ser25950Gly | |
| XM_024453100.1:c.67702A>G (TTN) | XP_024308868.1:p.Ser22568Gly |