Linked Data
ClinVar Variation Id:
238819
dbSNP Id:
rs878854324
gnomAD v3:
2-178589804-G-A
gnomAD v4:
2-178589804-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589804G>A , CM000664.2:g.178589804G>A | GRCh38 |
| NC_000002.11:g.179454531G>A , CM000664.1:g.179454531G>A | GRCh37 |
| NC_000002.10:g.179162777G>A | NCBI36 |
| NG_011618.3:g.245999C>T , LRG_391:g.245999C>T | |
| NG_051363.1:g.71978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54217C>T (TTN) | ENSP00000343764.6:p.Arg18073Ter | |
| ENST00000342175.11:c.35302C>T (TTN) | ENSP00000340554.6:p.Arg11768Ter | |
| ENST00000359218.10:c.35101C>T (TTN) | ENSP00000352154.5:p.Arg11701Ter | |
| ENST00000342175.10:c.35302C>T (TTN) | ENSP00000340554.6:p.Arg11768Ter | |
| ENST00000342992.10:c.54217C>T (TTN) | ENSP00000343764.6:p.Arg18073Ter | |
| ENST00000359218.9:c.35101C>T (TTN) | ENSP00000352154.5:p.Arg11701Ter | |
| ENST00000460472.6:c.34726C>T (TTN) | ENSP00000434586.1:p.Arg11576Ter | |
| ENST00000589042.5:c.61921C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg20641Ter | |
| ENST00000591111.5:c.56998C>T (TTN) | ENSP00000465570.1:p.Arg19000Ter | |
| ENST00000615779.4:c.56998C>T (TTN) | ENSP00000483597.1:p.Arg19000Ter | |
| NM_001256850.1:c.56998C>T (TTN) | NP_001243779.1:p.Arg19000Ter | |
| NM_001267550.2:c.61921C>T (TTN) MANE Select | NP_001254479.2:p.Arg20641Ter | |
| NM_003319.4:c.34726C>T (TTN) | NP_003310.4:p.Arg11576Ter | |
| NM_133378.4:c.54217C>T (TTN) | NP_596869.4:p.Arg18073Ter | |
| NM_133432.3:c.35101C>T (TTN) | NP_597676.3:p.Arg11701Ter | |
| NM_133437.4:c.35302C>T (TTN) | NP_597681.4:p.Arg11768Ter | |
| NR_038271.1:n.597-7792G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-1335G>A (TTN-AS1) | ||
| XM_011511729.1:c.61018C>T (TTN) | XP_011510031.1:p.Arg20340Ter | |
| XM_011511730.1:c.34912C>T (TTN) | XP_011510032.1:p.Arg11638Ter | |
| XM_011511731.1:c.34771C>T (TTN) | XP_011510033.1:p.Arg11591Ter | |
| XM_017004819.1:c.60814C>T (TTN) | XP_016860308.1:p.Arg20272Ter | |
| XM_017004820.1:c.56212C>T (TTN) | XP_016860309.1:p.Arg18738Ter | |
| XM_017004821.1:c.56209C>T (TTN) | XP_016860310.1:p.Arg18737Ter | |
| XM_017004822.1:c.53251C>T (TTN) | XP_016860311.1:p.Arg17751Ter | |
| XM_017004823.1:c.34867C>T (TTN) | XP_016860312.1:p.Arg11623Ter | |
| XM_024453094.1:c.56362C>T (TTN) | XP_024308862.1:p.Arg18788Ter | |
| XM_024453095.1:c.56359C>T (TTN) | XP_024308863.1:p.Arg18787Ter | |
| XM_024453096.1:c.55792C>T (TTN) | XP_024308864.1:p.Arg18598Ter | |
| XM_024453097.1:c.53134C>T (TTN) | XP_024308865.1:p.Arg17712Ter | |
| XM_024453098.1:c.53053C>T (TTN) | XP_024308866.1:p.Arg17685Ter | |
| XM_024453099.1:c.34816C>T (TTN) | XP_024308867.1:p.Arg11606Ter | |
| XM_024453100.1:c.24670C>T (TTN) | XP_024308868.1:p.Arg8224Ter |