Linked Data
ClinVar Variation Id:
223326
dbSNP Id:
rs72648250
gnomAD v2:
2-179413187-G-A
gnomAD v4:
2-178548460-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548460G>A , CM000664.2:g.178548460G>A | GRCh38 |
| NC_000002.11:g.179413187G>A , CM000664.1:g.179413187G>A | GRCh37 |
| NC_000002.10:g.179121433G>A | NCBI36 |
| NG_011618.3:g.287343C>T , LRG_391:g.287343C>T | |
| NG_051363.1:g.30634G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85462C>T (TTN) | ENSP00000343764.6:p.Arg28488Ter | |
| ENST00000342175.11:c.66547C>T (TTN) | ENSP00000340554.6:p.Arg22183Ter | |
| ENST00000359218.10:c.66346C>T (TTN) | ENSP00000352154.5:p.Arg22116Ter | |
| ENST00000342175.10:c.66547C>T (TTN) | ENSP00000340554.6:p.Arg22183Ter | |
| ENST00000342992.10:c.85462C>T (TTN) | ENSP00000343764.6:p.Arg28488Ter | |
| ENST00000359218.9:c.66346C>T (TTN) | ENSP00000352154.5:p.Arg22116Ter | |
| ENST00000460472.6:c.65971C>T (TTN) | ENSP00000434586.1:p.Arg21991Ter | |
| ENST00000589042.5:c.93166C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31056Ter | |
| ENST00000591111.5:c.88243C>T (TTN) | ENSP00000465570.1:p.Arg29415Ter | |
| ENST00000615779.4:c.88243C>T (TTN) | ENSP00000483597.1:p.Arg29415Ter | |
| NM_001256850.1:c.88243C>T (TTN) | NP_001243779.1:p.Arg29415Ter | |
| NM_001267550.2:c.93166C>T (TTN) MANE Select | NP_001254479.2:p.Arg31056Ter | |
| NM_003319.4:c.65971C>T (TTN) | NP_003310.4:p.Arg21991Ter | |
| NM_133378.4:c.85462C>T (TTN) | NP_596869.4:p.Arg28488Ter | |
| NM_133432.3:c.66346C>T (TTN) | NP_597676.3:p.Arg22116Ter | |
| NM_133437.4:c.66547C>T (TTN) | NP_597681.4:p.Arg22183Ter | |
| NR_038271.1:n.447-22840G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6099G>A (TTN-AS1) | ||
| XM_011511729.1:c.92263C>T (TTN) | XP_011510031.1:p.Arg30755Ter | |
| XM_011511730.1:c.66157C>T (TTN) | XP_011510032.1:p.Arg22053Ter | |
| XM_011511731.1:c.66016C>T (TTN) | XP_011510033.1:p.Arg22006Ter | |
| XM_017004819.1:c.92059C>T (TTN) | XP_016860308.1:p.Arg30687Ter | |
| XM_017004820.1:c.87457C>T (TTN) | XP_016860309.1:p.Arg29153Ter | |
| XM_017004821.1:c.87454C>T (TTN) | XP_016860310.1:p.Arg29152Ter | |
| XM_017004822.1:c.84496C>T (TTN) | XP_016860311.1:p.Arg28166Ter | |
| XM_017004823.1:c.66112C>T (TTN) | XP_016860312.1:p.Arg22038Ter | |
| XM_024453094.1:c.87607C>T (TTN) | XP_024308862.1:p.Arg29203Ter | |
| XM_024453095.1:c.87604C>T (TTN) | XP_024308863.1:p.Arg29202Ter | |
| XM_024453096.1:c.87037C>T (TTN) | XP_024308864.1:p.Arg29013Ter | |
| XM_024453097.1:c.84379C>T (TTN) | XP_024308865.1:p.Arg28127Ter | |
| XM_024453098.1:c.84298C>T (TTN) | XP_024308866.1:p.Arg28100Ter | |
| XM_024453099.1:c.66061C>T (TTN) | XP_024308867.1:p.Arg22021Ter | |
| XM_024453100.1:c.55915C>T (TTN) | XP_024308868.1:p.Arg18639Ter |