Linked Data
ClinVar Variation Id:
47479
ClinVar RCV Id:
RCV000040748
RCV000723789
RCV001170314
RCV001084841
RCV001132651
RCV001132652
RCV001132653
RCV001132654
RCV001132655
RCV002354217
RCV004534935
dbSNP Id:
rs200899806
ExAC:
2:179419727 C / T
gnomAD v2:
2-179419727-C-T
gnomAD v3:
2-178555000-C-T
gnomAD v4:
2-178555000-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178555000C>T , CM000664.2:g.178555000C>T | GRCh38 |
| NC_000002.11:g.179419727C>T , CM000664.1:g.179419727C>T | GRCh37 |
| NC_000002.10:g.179127973C>T | NCBI36 |
| NG_011618.3:g.280803G>A , LRG_391:g.280803G>A | |
| NG_051363.1:g.37174C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80755G>A (TTN) | ENSP00000343764.6:p.Val26919Met | |
| ENST00000342175.11:c.61840G>A (TTN) | ENSP00000340554.6:p.Val20614Met | |
| ENST00000359218.10:c.61639G>A (TTN) | ENSP00000352154.5:p.Val20547Met | |
| ENST00000342175.10:c.61840G>A (TTN) | ENSP00000340554.6:p.Val20614Met | |
| ENST00000342992.10:c.80755G>A (TTN) | ENSP00000343764.6:p.Val26919Met | |
| ENST00000359218.9:c.61639G>A (TTN) | ENSP00000352154.5:p.Val20547Met | |
| ENST00000460472.6:c.61264G>A (TTN) | ENSP00000434586.1:p.Val20422Met | |
| ENST00000589042.5:c.88459G>A (TTN) MANE Select | ENSP00000467141.1:p.Val29487Met | |
| ENST00000591111.5:c.83536G>A (TTN) | ENSP00000465570.1:p.Val27846Met | |
| ENST00000615779.4:c.83536G>A (TTN) | ENSP00000483597.1:p.Val27846Met | |
| NM_001256850.1:c.83536G>A (TTN) | NP_001243779.1:p.Val27846Met | |
| NM_001267550.2:c.88459G>A (TTN) MANE Select | NP_001254479.2:p.Val29487Met | |
| NM_003319.4:c.61264G>A (TTN) | NP_003310.4:p.Val20422Met | |
| NM_133378.4:c.80755G>A (TTN) | NP_596869.4:p.Val26919Met | |
| NM_133432.3:c.61639G>A (TTN) | NP_597676.3:p.Val20547Met | |
| NM_133437.4:c.61840G>A (TTN) | NP_597681.4:p.Val20614Met | |
| NR_038271.1:n.447-16300C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+12639C>T (TTN-AS1) | ||
| XM_011511729.1:c.87556G>A (TTN) | XP_011510031.1:p.Val29186Met | |
| XM_011511730.1:c.61450G>A (TTN) | XP_011510032.1:p.Val20484Met | |
| XM_011511731.1:c.61309G>A (TTN) | XP_011510033.1:p.Val20437Met | |
| XM_017004819.1:c.87352G>A (TTN) | XP_016860308.1:p.Val29118Met | |
| XM_017004820.1:c.82750G>A (TTN) | XP_016860309.1:p.Val27584Met | |
| XM_017004821.1:c.82747G>A (TTN) | XP_016860310.1:p.Val27583Met | |
| XM_017004822.1:c.79789G>A (TTN) | XP_016860311.1:p.Val26597Met | |
| XM_017004823.1:c.61405G>A (TTN) | XP_016860312.1:p.Val20469Met | |
| XM_024453094.1:c.82900G>A (TTN) | XP_024308862.1:p.Val27634Met | |
| XM_024453095.1:c.82897G>A (TTN) | XP_024308863.1:p.Val27633Met | |
| XM_024453096.1:c.82330G>A (TTN) | XP_024308864.1:p.Val27444Met | |
| XM_024453097.1:c.79672G>A (TTN) | XP_024308865.1:p.Val26558Met | |
| XM_024453098.1:c.79591G>A (TTN) | XP_024308866.1:p.Val26531Met | |
| XM_024453099.1:c.61354G>A (TTN) | XP_024308867.1:p.Val20452Met | |
| XM_024453100.1:c.51208G>A (TTN) | XP_024308868.1:p.Val17070Met |