Linked Data
ClinVar Variation Id:
501671
dbSNP Id:
rs1267766480
gnomAD v2:
2-179440983-T-G
gnomAD v3:
2-178576256-T-G
gnomAD v4:
2-178576256-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576256T>G , CM000664.2:g.178576256T>G | GRCh38 |
| NC_000002.11:g.179440983T>G , CM000664.1:g.179440983T>G | GRCh37 |
| NC_000002.10:g.179149229T>G | NCBI36 |
| NG_011618.3:g.259547A>C , LRG_391:g.259547A>C | |
| NG_051363.1:g.58430T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62172A>C (TTN) | ENSP00000343764.6:p.Thr20724= | |
| ENST00000342175.11:c.43257A>C (TTN) | ENSP00000340554.6:p.Thr14419= | |
| ENST00000359218.10:c.43056A>C (TTN) | ENSP00000352154.5:p.Thr14352= | |
| ENST00000342175.10:c.43257A>C (TTN) | ENSP00000340554.6:p.Thr14419= | |
| ENST00000342992.10:c.62172A>C (TTN) | ENSP00000343764.6:p.Thr20724= | |
| ENST00000359218.9:c.43056A>C (TTN) | ENSP00000352154.5:p.Thr14352= | |
| ENST00000460472.6:c.42681A>C (TTN) | ENSP00000434586.1:p.Thr14227= | |
| ENST00000589042.5:c.69876A>C (TTN) MANE Select | ENSP00000467141.1:p.Thr23292= | |
| ENST00000591111.5:c.64953A>C (TTN) | ENSP00000465570.1:p.Thr21651= | |
| ENST00000615779.4:c.64953A>C (TTN) | ENSP00000483597.1:p.Thr21651= | |
| NM_001256850.1:c.64953A>C (TTN) | NP_001243779.1:p.Thr21651= | |
| NM_001267550.2:c.69876A>C (TTN) MANE Select | NP_001254479.2:p.Thr23292= | |
| NM_003319.4:c.42681A>C (TTN) | NP_003310.4:p.Thr14227= | |
| NM_133378.4:c.62172A>C (TTN) | NP_596869.4:p.Thr20724= | |
| NM_133432.3:c.43056A>C (TTN) | NP_597676.3:p.Thr14352= | |
| NM_133437.4:c.43257A>C (TTN) | NP_597681.4:p.Thr14419= | |
| NR_038271.1:n.596+4807T>G (TTN-AS1) | ||
| NR_038272.1:n.2044-6316T>G (TTN-AS1) | ||
| XM_011511729.1:c.68973A>C (TTN) | XP_011510031.1:p.Thr22991= | |
| XM_011511730.1:c.42867A>C (TTN) | XP_011510032.1:p.Thr14289= | |
| XM_011511731.1:c.42726A>C (TTN) | XP_011510033.1:p.Thr14242= | |
| XM_017004819.1:c.68769A>C (TTN) | XP_016860308.1:p.Thr22923= | |
| XM_017004820.1:c.64167A>C (TTN) | XP_016860309.1:p.Thr21389= | |
| XM_017004821.1:c.64164A>C (TTN) | XP_016860310.1:p.Thr21388= | |
| XM_017004822.1:c.61206A>C (TTN) | XP_016860311.1:p.Thr20402= | |
| XM_017004823.1:c.42822A>C (TTN) | XP_016860312.1:p.Thr14274= | |
| XM_024453094.1:c.64317A>C (TTN) | XP_024308862.1:p.Thr21439= | |
| XM_024453095.1:c.64314A>C (TTN) | XP_024308863.1:p.Thr21438= | |
| XM_024453096.1:c.63747A>C (TTN) | XP_024308864.1:p.Thr21249= | |
| XM_024453097.1:c.61089A>C (TTN) | XP_024308865.1:p.Thr20363= | |
| XM_024453098.1:c.61008A>C (TTN) | XP_024308866.1:p.Thr20336= | |
| XM_024453099.1:c.42771A>C (TTN) | XP_024308867.1:p.Thr14257= | |
| XM_024453100.1:c.32625A>C (TTN) | XP_024308868.1:p.Thr10875= |