Linked Data
ClinVar Variation Id:
404828
dbSNP Id:
rs545954490
ExAC:
2:179434205 G / A
gnomAD v2:
2-179434205-G-A
gnomAD v3:
2-178569478-G-A
gnomAD v4:
2-178569478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569478G>A , CM000664.2:g.178569478G>A | GRCh38 |
| NC_000002.11:g.179434205G>A , CM000664.1:g.179434205G>A | GRCh37 |
| NC_000002.10:g.179142451G>A | NCBI36 |
| NG_011618.3:g.266325C>T , LRG_391:g.266325C>T | |
| NG_051363.1:g.51652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68950C>T (TTN) | ENSP00000343764.6:p.Arg22984Ter | |
| ENST00000342175.11:c.50035C>T (TTN) | ENSP00000340554.6:p.Arg16679Ter | |
| ENST00000359218.10:c.49834C>T (TTN) | ENSP00000352154.5:p.Arg16612Ter | |
| ENST00000342175.10:c.50035C>T (TTN) | ENSP00000340554.6:p.Arg16679Ter | |
| ENST00000342992.10:c.68950C>T (TTN) | ENSP00000343764.6:p.Arg22984Ter | |
| ENST00000359218.9:c.49834C>T (TTN) | ENSP00000352154.5:p.Arg16612Ter | |
| ENST00000460472.6:c.49459C>T (TTN) | ENSP00000434586.1:p.Arg16487Ter | |
| ENST00000589042.5:c.76654C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg25552Ter | |
| ENST00000591111.5:c.71731C>T (TTN) | ENSP00000465570.1:p.Arg23911Ter | |
| ENST00000615779.4:c.71731C>T (TTN) | ENSP00000483597.1:p.Arg23911Ter | |
| NM_001256850.1:c.71731C>T (TTN) | NP_001243779.1:p.Arg23911Ter | |
| NM_001267550.2:c.76654C>T (TTN) MANE Select | NP_001254479.2:p.Arg25552Ter | |
| NM_003319.4:c.49459C>T (TTN) | NP_003310.4:p.Arg16487Ter | |
| NM_133378.4:c.68950C>T (TTN) | NP_596869.4:p.Arg22984Ter | |
| NM_133432.3:c.49834C>T (TTN) | NP_597676.3:p.Arg16612Ter | |
| NM_133437.4:c.50035C>T (TTN) | NP_597681.4:p.Arg16679Ter | |
| NR_038271.1:n.447-1822G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-13094G>A (TTN-AS1) | ||
| XM_011511729.1:c.75751C>T (TTN) | XP_011510031.1:p.Arg25251Ter | |
| XM_011511730.1:c.49645C>T (TTN) | XP_011510032.1:p.Arg16549Ter | |
| XM_011511731.1:c.49504C>T (TTN) | XP_011510033.1:p.Arg16502Ter | |
| XM_017004819.1:c.75547C>T (TTN) | XP_016860308.1:p.Arg25183Ter | |
| XM_017004820.1:c.70945C>T (TTN) | XP_016860309.1:p.Arg23649Ter | |
| XM_017004821.1:c.70942C>T (TTN) | XP_016860310.1:p.Arg23648Ter | |
| XM_017004822.1:c.67984C>T (TTN) | XP_016860311.1:p.Arg22662Ter | |
| XM_017004823.1:c.49600C>T (TTN) | XP_016860312.1:p.Arg16534Ter | |
| XM_024453094.1:c.71095C>T (TTN) | XP_024308862.1:p.Arg23699Ter | |
| XM_024453095.1:c.71092C>T (TTN) | XP_024308863.1:p.Arg23698Ter | |
| XM_024453096.1:c.70525C>T (TTN) | XP_024308864.1:p.Arg23509Ter | |
| XM_024453097.1:c.67867C>T (TTN) | XP_024308865.1:p.Arg22623Ter | |
| XM_024453098.1:c.67786C>T (TTN) | XP_024308866.1:p.Arg22596Ter | |
| XM_024453099.1:c.49549C>T (TTN) | XP_024308867.1:p.Arg16517Ter | |
| XM_024453100.1:c.39403C>T (TTN) | XP_024308868.1:p.Arg13135Ter |