Linked Data
ClinVar Variation Id:
448822
dbSNP Id:
rs369907507
gnomAD v2:
2-179425382-T-C
gnomAD v3:
2-178560655-T-C
gnomAD v4:
2-178560655-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560655T>C , CM000664.2:g.178560655T>C | GRCh38 |
| NC_000002.11:g.179425382T>C , CM000664.1:g.179425382T>C | GRCh37 |
| NC_000002.10:g.179133628T>C | NCBI36 |
| NG_011618.3:g.275148A>G , LRG_391:g.275148A>G | |
| NG_051363.1:g.42829T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77773A>G (TTN) | ENSP00000343764.6:p.Thr25925Ala | |
| ENST00000342175.11:c.58858A>G (TTN) | ENSP00000340554.6:p.Thr19620Ala | |
| ENST00000359218.10:c.58657A>G (TTN) | ENSP00000352154.5:p.Thr19553Ala | |
| ENST00000342175.10:c.58858A>G (TTN) | ENSP00000340554.6:p.Thr19620Ala | |
| ENST00000342992.10:c.77773A>G (TTN) | ENSP00000343764.6:p.Thr25925Ala | |
| ENST00000359218.9:c.58657A>G (TTN) | ENSP00000352154.5:p.Thr19553Ala | |
| ENST00000460472.6:c.58282A>G (TTN) | ENSP00000434586.1:p.Thr19428Ala | |
| ENST00000589042.5:c.85477A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr28493Ala | |
| ENST00000591111.5:c.80554A>G (TTN) | ENSP00000465570.1:p.Thr26852Ala | |
| ENST00000615779.4:c.80554A>G (TTN) | ENSP00000483597.1:p.Thr26852Ala | |
| NM_001256850.1:c.80554A>G (TTN) | NP_001243779.1:p.Thr26852Ala | |
| NM_001267550.2:c.85477A>G (TTN) MANE Select | NP_001254479.2:p.Thr28493Ala | |
| NM_003319.4:c.58282A>G (TTN) | NP_003310.4:p.Thr19428Ala | |
| NM_133378.4:c.77773A>G (TTN) | NP_596869.4:p.Thr25925Ala | |
| NM_133432.3:c.58657A>G (TTN) | NP_597676.3:p.Thr19553Ala | |
| NM_133437.4:c.58858A>G (TTN) | NP_597681.4:p.Thr19620Ala | |
| NR_038271.1:n.447-10645T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+18294T>C (TTN-AS1) | ||
| XM_011511729.1:c.84574A>G (TTN) | XP_011510031.1:p.Thr28192Ala | |
| XM_011511730.1:c.58468A>G (TTN) | XP_011510032.1:p.Thr19490Ala | |
| XM_011511731.1:c.58327A>G (TTN) | XP_011510033.1:p.Thr19443Ala | |
| XM_017004819.1:c.84370A>G (TTN) | XP_016860308.1:p.Thr28124Ala | |
| XM_017004820.1:c.79768A>G (TTN) | XP_016860309.1:p.Thr26590Ala | |
| XM_017004821.1:c.79765A>G (TTN) | XP_016860310.1:p.Thr26589Ala | |
| XM_017004822.1:c.76807A>G (TTN) | XP_016860311.1:p.Thr25603Ala | |
| XM_017004823.1:c.58423A>G (TTN) | XP_016860312.1:p.Thr19475Ala | |
| XM_024453094.1:c.79918A>G (TTN) | XP_024308862.1:p.Thr26640Ala | |
| XM_024453095.1:c.79915A>G (TTN) | XP_024308863.1:p.Thr26639Ala | |
| XM_024453096.1:c.79348A>G (TTN) | XP_024308864.1:p.Thr26450Ala | |
| XM_024453097.1:c.76690A>G (TTN) | XP_024308865.1:p.Thr25564Ala | |
| XM_024453098.1:c.76609A>G (TTN) | XP_024308866.1:p.Thr25537Ala | |
| XM_024453099.1:c.58372A>G (TTN) | XP_024308867.1:p.Thr19458Ala | |
| XM_024453100.1:c.48226A>G (TTN) | XP_024308868.1:p.Thr16076Ala |