Linked Data
ClinVar Variation Id:
332824
dbSNP Id:
rs886055259
gnomAD v3:
2-178593224-T-C
gnomAD v4:
2-178593224-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593224T>C , CM000664.2:g.178593224T>C | GRCh38 |
| NC_000002.11:g.179457951T>C , CM000664.1:g.179457951T>C | GRCh37 |
| NC_000002.10:g.179166197T>C | NCBI36 |
| NG_011618.3:g.242579A>G , LRG_391:g.242579A>G | |
| NG_051363.1:g.75398T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.51280A>G (TTN) | ENSP00000343764.6:p.Ile17094Val | |
| ENST00000342175.11:c.32365A>G (TTN) | ENSP00000340554.6:p.Ile10789Val | |
| ENST00000359218.10:c.32164A>G (TTN) | ENSP00000352154.5:p.Ile10722Val | |
| ENST00000342175.10:c.32365A>G (TTN) | ENSP00000340554.6:p.Ile10789Val | |
| ENST00000342992.10:c.51280A>G (TTN) | ENSP00000343764.6:p.Ile17094Val | |
| ENST00000359218.9:c.32164A>G (TTN) | ENSP00000352154.5:p.Ile10722Val | |
| ENST00000460472.6:c.31789A>G (TTN) | ENSP00000434586.1:p.Ile10597Val | |
| ENST00000589042.5:c.58984A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile19662Val | |
| ENST00000591111.5:c.54061A>G (TTN) | ENSP00000465570.1:p.Ile18021Val | |
| ENST00000615779.4:c.54061A>G (TTN) | ENSP00000483597.1:p.Ile18021Val | |
| NM_001256850.1:c.54061A>G (TTN) | NP_001243779.1:p.Ile18021Val | |
| NM_001267550.2:c.58984A>G (TTN) MANE Select | NP_001254479.2:p.Ile19662Val | |
| NM_003319.4:c.31789A>G (TTN) | NP_003310.4:p.Ile10597Val | |
| NM_133378.4:c.51280A>G (TTN) | NP_596869.4:p.Ile17094Val | |
| NM_133432.3:c.32164A>G (TTN) | NP_597676.3:p.Ile10722Val | |
| NM_133437.4:c.32365A>G (TTN) | NP_597681.4:p.Ile10789Val | |
| NR_038271.1:n.597-4372T>C (TTN-AS1) | ||
| NR_038272.1:n.3364+1910T>C (TTN-AS1) | ||
| XM_011511729.1:c.58081A>G (TTN) | XP_011510031.1:p.Ile19361Val | |
| XM_011511730.1:c.31975A>G (TTN) | XP_011510032.1:p.Ile10659Val | |
| XM_011511731.1:c.31834A>G (TTN) | XP_011510033.1:p.Ile10612Val | |
| XM_017004819.1:c.57877A>G (TTN) | XP_016860308.1:p.Ile19293Val | |
| XM_017004820.1:c.53275A>G (TTN) | XP_016860309.1:p.Ile17759Val | |
| XM_017004821.1:c.53272A>G (TTN) | XP_016860310.1:p.Ile17758Val | |
| XM_017004822.1:c.50314A>G (TTN) | XP_016860311.1:p.Ile16772Val | |
| XM_017004823.1:c.31930A>G (TTN) | XP_016860312.1:p.Ile10644Val | |
| XM_024453094.1:c.53425A>G (TTN) | XP_024308862.1:p.Ile17809Val | |
| XM_024453095.1:c.53422A>G (TTN) | XP_024308863.1:p.Ile17808Val | |
| XM_024453096.1:c.52855A>G (TTN) | XP_024308864.1:p.Ile17619Val | |
| XM_024453097.1:c.50197A>G (TTN) | XP_024308865.1:p.Ile16733Val | |
| XM_024453098.1:c.50116A>G (TTN) | XP_024308866.1:p.Ile16706Val | |
| XM_024453099.1:c.31879A>G (TTN) | XP_024308867.1:p.Ile10627Val | |
| XM_024453100.1:c.21733A>G (TTN) | XP_024308868.1:p.Ile7245Val |