Linked Data
ClinVar Variation Id:
195921
ClinVar RCV Id:
RCV000176605
RCV000251065
RCV000284206
RCV000289353
RCV000333758
RCV000388445
RCV000344432
RCV000724705
RCV001079619
dbSNP Id:
rs372065796
ExAC:
2:179454172 A / G
gnomAD v2:
2-179454172-A-G
gnomAD v3:
2-178589445-A-G
gnomAD v4:
2-178589445-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589445A>G , CM000664.2:g.178589445A>G | GRCh38 |
| NC_000002.11:g.179454172A>G , CM000664.1:g.179454172A>G | GRCh37 |
| NC_000002.10:g.179162418A>G | NCBI36 |
| NG_011618.3:g.246358T>C , LRG_391:g.246358T>C | |
| NG_051363.1:g.71619A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54576T>C (TTN) | ENSP00000343764.6:p.Val18192= | |
| ENST00000342175.11:c.35661T>C (TTN) | ENSP00000340554.6:p.Val11887= | |
| ENST00000359218.10:c.35460T>C (TTN) | ENSP00000352154.5:p.Val11820= | |
| ENST00000342175.10:c.35661T>C (TTN) | ENSP00000340554.6:p.Val11887= | |
| ENST00000342992.10:c.54576T>C (TTN) | ENSP00000343764.6:p.Val18192= | |
| ENST00000359218.9:c.35460T>C (TTN) | ENSP00000352154.5:p.Val11820= | |
| ENST00000460472.6:c.35085T>C (TTN) | ENSP00000434586.1:p.Val11695= | |
| ENST00000589042.5:c.62280T>C (TTN) MANE Select | ENSP00000467141.1:p.Val20760= | |
| ENST00000591111.5:c.57357T>C (TTN) | ENSP00000465570.1:p.Val19119= | |
| ENST00000615779.4:c.57357T>C (TTN) | ENSP00000483597.1:p.Val19119= | |
| NM_001256850.1:c.57357T>C (TTN) | NP_001243779.1:p.Val19119= | |
| NM_001267550.2:c.62280T>C (TTN) MANE Select | NP_001254479.2:p.Val20760= | |
| NM_003319.4:c.35085T>C (TTN) | NP_003310.4:p.Val11695= | |
| NM_133378.4:c.54576T>C (TTN) | NP_596869.4:p.Val18192= | |
| NM_133432.3:c.35460T>C (TTN) | NP_597676.3:p.Val11820= | |
| NM_133437.4:c.35661T>C (TTN) | NP_597681.4:p.Val11887= | |
| NR_038271.1:n.597-8151A>G (TTN-AS1) | ||
| NR_038272.1:n.3189-1694A>G (TTN-AS1) | ||
| XM_011511729.1:c.61377T>C (TTN) | XP_011510031.1:p.Val20459= | |
| XM_011511730.1:c.35271T>C (TTN) | XP_011510032.1:p.Val11757= | |
| XM_011511731.1:c.35130T>C (TTN) | XP_011510033.1:p.Val11710= | |
| XM_017004819.1:c.61173T>C (TTN) | XP_016860308.1:p.Val20391= | |
| XM_017004820.1:c.56571T>C (TTN) | XP_016860309.1:p.Val18857= | |
| XM_017004821.1:c.56568T>C (TTN) | XP_016860310.1:p.Val18856= | |
| XM_017004822.1:c.53610T>C (TTN) | XP_016860311.1:p.Val17870= | |
| XM_017004823.1:c.35226T>C (TTN) | XP_016860312.1:p.Val11742= | |
| XM_024453094.1:c.56721T>C (TTN) | XP_024308862.1:p.Val18907= | |
| XM_024453095.1:c.56718T>C (TTN) | XP_024308863.1:p.Val18906= | |
| XM_024453096.1:c.56151T>C (TTN) | XP_024308864.1:p.Val18717= | |
| XM_024453097.1:c.53493T>C (TTN) | XP_024308865.1:p.Val17831= | |
| XM_024453098.1:c.53412T>C (TTN) | XP_024308866.1:p.Val17804= | |
| XM_024453099.1:c.35175T>C (TTN) | XP_024308867.1:p.Val11725= | |
| XM_024453100.1:c.25029T>C (TTN) | XP_024308868.1:p.Val8343= |