Linked Data
ClinVar Variation Id:
380388
dbSNP Id:
rs374228930
ExAC:
2:179472624 G / A
gnomAD v2:
2-179472624-G-A
gnomAD v3:
2-178607897-G-A
gnomAD v4:
2-178607897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607897G>A , CM000664.2:g.178607897G>A | GRCh38 |
| NC_000002.11:g.179472624G>A , CM000664.1:g.179472624G>A | GRCh37 |
| NC_000002.10:g.179180869G>A | NCBI36 |
| NG_011618.3:g.227906C>T , LRG_391:g.227906C>T | |
| NG_051363.1:g.90071G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45186C>T (TTN) | ENSP00000343764.6:p.Thr15062= | |
| ENST00000342175.11:c.26271C>T (TTN) | ENSP00000340554.6:p.Thr8757= | |
| ENST00000359218.10:c.26070C>T (TTN) | ENSP00000352154.5:p.Thr8690= | |
| ENST00000342175.10:c.26271C>T (TTN) | ENSP00000340554.6:p.Thr8757= | |
| ENST00000342992.10:c.45186C>T (TTN) | ENSP00000343764.6:p.Thr15062= | |
| ENST00000359218.9:c.26070C>T (TTN) | ENSP00000352154.5:p.Thr8690= | |
| ENST00000460472.6:c.25695C>T (TTN) | ENSP00000434586.1:p.Thr8565= | |
| ENST00000589042.5:c.52890C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr17630= | |
| ENST00000591111.5:c.47967C>T (TTN) | ENSP00000465570.1:p.Thr15989= | |
| ENST00000615779.4:c.47967C>T (TTN) | ENSP00000483597.1:p.Thr15989= | |
| NM_001256850.1:c.47967C>T (TTN) | NP_001243779.1:p.Thr15989= | |
| NM_001267550.2:c.52890C>T (TTN) MANE Select | NP_001254479.2:p.Thr17630= | |
| NM_003319.4:c.25695C>T (TTN) | NP_003310.4:p.Thr8565= | |
| NM_133378.4:c.45186C>T (TTN) | NP_596869.4:p.Thr15062= | |
| NM_133432.3:c.26070C>T (TTN) | NP_597676.3:p.Thr8690= | |
| NM_133437.4:c.26271C>T (TTN) | NP_597681.4:p.Thr8757= | |
| NR_038271.1:n.683-270G>A (TTN-AS1) | ||
| XM_011511729.1:c.51987C>T (TTN) | XP_011510031.1:p.Thr17329= | |
| XM_011511730.1:c.25881C>T (TTN) | XP_011510032.1:p.Thr8627= | |
| XM_011511731.1:c.25740C>T (TTN) | XP_011510033.1:p.Thr8580= | |
| XM_017004819.1:c.51783C>T (TTN) | XP_016860308.1:p.Thr17261= | |
| XM_017004820.1:c.47181C>T (TTN) | XP_016860309.1:p.Thr15727= | |
| XM_017004821.1:c.47178C>T (TTN) | XP_016860310.1:p.Thr15726= | |
| XM_017004822.1:c.44220C>T (TTN) | XP_016860311.1:p.Thr14740= | |
| XM_017004823.1:c.25836C>T (TTN) | XP_016860312.1:p.Thr8612= | |
| XM_024453094.1:c.47331C>T (TTN) | XP_024308862.1:p.Thr15777= | |
| XM_024453095.1:c.47328C>T (TTN) | XP_024308863.1:p.Thr15776= | |
| XM_024453096.1:c.46761C>T (TTN) | XP_024308864.1:p.Thr15587= | |
| XM_024453097.1:c.44103C>T (TTN) | XP_024308865.1:p.Thr14701= | |
| XM_024453098.1:c.44022C>T (TTN) | XP_024308866.1:p.Thr14674= | |
| XM_024453099.1:c.25785C>T (TTN) | XP_024308867.1:p.Thr8595= | |
| XM_024453100.1:c.15639C>T (TTN) | XP_024308868.1:p.Thr5213= |