Linked Data
ClinVar Variation Id:
390126
dbSNP Id:
rs369875680
ExAC:
2:179431515 C / A
gnomAD v2:
2-179431515-C-A
gnomAD v3:
2-178566788-C-A
gnomAD v4:
2-178566788-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566788C>A , CM000664.2:g.178566788C>A | GRCh38 |
| NC_000002.11:g.179431515C>A , CM000664.1:g.179431515C>A | GRCh37 |
| NC_000002.10:g.179139761C>A | NCBI36 |
| NG_011618.3:g.269015G>T , LRG_391:g.269015G>T | |
| NG_051363.1:g.48962C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71640G>T (TTN) | ENSP00000343764.6:p.Val23880= | |
| ENST00000342175.11:c.52725G>T (TTN) | ENSP00000340554.6:p.Val17575= | |
| ENST00000359218.10:c.52524G>T (TTN) | ENSP00000352154.5:p.Val17508= | |
| ENST00000342175.10:c.52725G>T (TTN) | ENSP00000340554.6:p.Val17575= | |
| ENST00000342992.10:c.71640G>T (TTN) | ENSP00000343764.6:p.Val23880= | |
| ENST00000359218.9:c.52524G>T (TTN) | ENSP00000352154.5:p.Val17508= | |
| ENST00000460472.6:c.52149G>T (TTN) | ENSP00000434586.1:p.Val17383= | |
| ENST00000589042.5:c.79344G>T (TTN) MANE Select | ENSP00000467141.1:p.Val26448= | |
| ENST00000591111.5:c.74421G>T (TTN) | ENSP00000465570.1:p.Val24807= | |
| ENST00000615779.4:c.74421G>T (TTN) | ENSP00000483597.1:p.Val24807= | |
| NM_001256850.1:c.74421G>T (TTN) | NP_001243779.1:p.Val24807= | |
| NM_001267550.2:c.79344G>T (TTN) MANE Select | NP_001254479.2:p.Val26448= | |
| NM_003319.4:c.52149G>T (TTN) | NP_003310.4:p.Val17383= | |
| NM_133378.4:c.71640G>T (TTN) | NP_596869.4:p.Val23880= | |
| NM_133432.3:c.52524G>T (TTN) | NP_597676.3:p.Val17508= | |
| NM_133437.4:c.52725G>T (TTN) | NP_597681.4:p.Val17575= | |
| NR_038271.1:n.447-4512C>A (TTN-AS1) | ||
| NR_038272.1:n.2044-15784C>A (TTN-AS1) | ||
| XM_011511729.1:c.78441G>T (TTN) | XP_011510031.1:p.Val26147= | |
| XM_011511730.1:c.52335G>T (TTN) | XP_011510032.1:p.Val17445= | |
| XM_011511731.1:c.52194G>T (TTN) | XP_011510033.1:p.Val17398= | |
| XM_017004819.1:c.78237G>T (TTN) | XP_016860308.1:p.Val26079= | |
| XM_017004820.1:c.73635G>T (TTN) | XP_016860309.1:p.Val24545= | |
| XM_017004821.1:c.73632G>T (TTN) | XP_016860310.1:p.Val24544= | |
| XM_017004822.1:c.70674G>T (TTN) | XP_016860311.1:p.Val23558= | |
| XM_017004823.1:c.52290G>T (TTN) | XP_016860312.1:p.Val17430= | |
| XM_024453094.1:c.73785G>T (TTN) | XP_024308862.1:p.Val24595= | |
| XM_024453095.1:c.73782G>T (TTN) | XP_024308863.1:p.Val24594= | |
| XM_024453096.1:c.73215G>T (TTN) | XP_024308864.1:p.Val24405= | |
| XM_024453097.1:c.70557G>T (TTN) | XP_024308865.1:p.Val23519= | |
| XM_024453098.1:c.70476G>T (TTN) | XP_024308866.1:p.Val23492= | |
| XM_024453099.1:c.52239G>T (TTN) | XP_024308867.1:p.Val17413= | |
| XM_024453100.1:c.42093G>T (TTN) | XP_024308868.1:p.Val14031= |