Linked Data
ClinVar Variation Id:
535379
dbSNP Id:
rs373878153
ExAC:
2:179482648 A / G
gnomAD v2:
2-179482648-A-G
gnomAD v3:
2-178617921-A-G
gnomAD v4:
2-178617921-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617921A>G , CM000664.2:g.178617921A>G | GRCh38 |
| NC_000002.11:g.179482648A>G , CM000664.1:g.179482648A>G | GRCh37 |
| NC_000002.10:g.179190893A>G | NCBI36 |
| NG_011618.3:g.217882T>C , LRG_391:g.217882T>C | |
| NG_051363.1:g.100095A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39726T>C (TTN) | ENSP00000343764.6:p.Thr13242= | |
| ENST00000342175.11:c.20811T>C (TTN) | ENSP00000340554.6:p.Thr6937= | |
| ENST00000359218.10:c.20610T>C (TTN) | ENSP00000352154.5:p.Thr6870= | |
| ENST00000342175.10:c.20811T>C (TTN) | ENSP00000340554.6:p.Thr6937= | |
| ENST00000342992.10:c.39726T>C (TTN) | ENSP00000343764.6:p.Thr13242= | |
| ENST00000359218.9:c.20610T>C (TTN) | ENSP00000352154.5:p.Thr6870= | |
| ENST00000460472.6:c.20235T>C (TTN) | ENSP00000434586.1:p.Thr6745= | |
| ENST00000589042.5:c.47430T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr15810= | |
| ENST00000591111.5:c.42507T>C (TTN) | ENSP00000465570.1:p.Thr14169= | |
| ENST00000615779.4:c.42507T>C (TTN) | ENSP00000483597.1:p.Thr14169= | |
| NM_001256850.1:c.42507T>C (TTN) | NP_001243779.1:p.Thr14169= | |
| NM_001267550.2:c.47430T>C (TTN) MANE Select | NP_001254479.2:p.Thr15810= | |
| NM_003319.4:c.20235T>C (TTN) | NP_003310.4:p.Thr6745= | |
| NM_133378.4:c.39726T>C (TTN) | NP_596869.4:p.Thr13242= | |
| NM_133432.3:c.20610T>C (TTN) | NP_597676.3:p.Thr6870= | |
| NM_133437.4:c.20811T>C (TTN) | NP_597681.4:p.Thr6937= | |
| NR_038271.1:n.1605-1832A>G (TTN-AS1) | ||
| XM_011511729.1:c.46527T>C (TTN) | XP_011510031.1:p.Thr15509= | |
| XM_011511730.1:c.20421T>C (TTN) | XP_011510032.1:p.Thr6807= | |
| XM_011511731.1:c.20280T>C (TTN) | XP_011510033.1:p.Thr6760= | |
| XM_017004819.1:c.46323T>C (TTN) | XP_016860308.1:p.Thr15441= | |
| XM_017004820.1:c.41721T>C (TTN) | XP_016860309.1:p.Thr13907= | |
| XM_017004821.1:c.41718T>C (TTN) | XP_016860310.1:p.Thr13906= | |
| XM_017004822.1:c.38760T>C (TTN) | XP_016860311.1:p.Thr12920= | |
| XM_017004823.1:c.20376T>C (TTN) | XP_016860312.1:p.Thr6792= | |
| XM_024453094.1:c.41871T>C (TTN) | XP_024308862.1:p.Thr13957= | |
| XM_024453095.1:c.41868T>C (TTN) | XP_024308863.1:p.Thr13956= | |
| XM_024453096.1:c.41301T>C (TTN) | XP_024308864.1:p.Thr13767= | |
| XM_024453097.1:c.38643T>C (TTN) | XP_024308865.1:p.Thr12881= | |
| XM_024453098.1:c.38562T>C (TTN) | XP_024308866.1:p.Thr12854= | |
| XM_024453099.1:c.20325T>C (TTN) | XP_024308867.1:p.Thr6775= | |
| XM_024453100.1:c.10179T>C (TTN) | XP_024308868.1:p.Thr3393= |