Linked Data
ClinVar Variation Id:
202320
dbSNP Id:
rs774568339
gnomAD v3:
2-178580169-A-T
gnomAD v4:
2-178580169-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580169A>T , CM000664.2:g.178580169A>T | GRCh38 |
| NC_000002.11:g.179444896A>T , CM000664.1:g.179444896A>T | GRCh37 |
| NC_000002.10:g.179153142A>T | NCBI36 |
| NG_011618.3:g.255634T>A , LRG_391:g.255634T>A | |
| NG_051363.1:g.62343A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59414T>A (TTN) | ENSP00000343764.6:p.Val19805Asp | |
| ENST00000342175.11:c.40499T>A (TTN) | ENSP00000340554.6:p.Val13500Asp | |
| ENST00000359218.10:c.40298T>A (TTN) | ENSP00000352154.5:p.Val13433Asp | |
| ENST00000342175.10:c.40499T>A (TTN) | ENSP00000340554.6:p.Val13500Asp | |
| ENST00000342992.10:c.59414T>A (TTN) | ENSP00000343764.6:p.Val19805Asp | |
| ENST00000359218.9:c.40298T>A (TTN) | ENSP00000352154.5:p.Val13433Asp | |
| ENST00000460472.6:c.39923T>A (TTN) | ENSP00000434586.1:p.Val13308Asp | |
| ENST00000589042.5:c.67118T>A (TTN) MANE Select | ENSP00000467141.1:p.Val22373Asp | |
| ENST00000591111.5:c.62195T>A (TTN) | ENSP00000465570.1:p.Val20732Asp | |
| ENST00000615779.4:c.62195T>A (TTN) | ENSP00000483597.1:p.Val20732Asp | |
| NM_001256850.1:c.62195T>A (TTN) | NP_001243779.1:p.Val20732Asp | |
| NM_001267550.2:c.67118T>A (TTN) MANE Select | NP_001254479.2:p.Val22373Asp | |
| NM_003319.4:c.39923T>A (TTN) | NP_003310.4:p.Val13308Asp | |
| NM_133378.4:c.59414T>A (TTN) | NP_596869.4:p.Val19805Asp | |
| NM_133432.3:c.40298T>A (TTN) | NP_597676.3:p.Val13433Asp | |
| NM_133437.4:c.40499T>A (TTN) | NP_597681.4:p.Val13500Asp | |
| NR_038271.1:n.596+8720A>T (TTN-AS1) | ||
| NR_038272.1:n.2044-2403A>T (TTN-AS1) | ||
| XM_011511729.1:c.66215T>A (TTN) | XP_011510031.1:p.Val22072Asp | |
| XM_011511730.1:c.40109T>A (TTN) | XP_011510032.1:p.Val13370Asp | |
| XM_011511731.1:c.39968T>A (TTN) | XP_011510033.1:p.Val13323Asp | |
| XM_017004819.1:c.66011T>A (TTN) | XP_016860308.1:p.Val22004Asp | |
| XM_017004820.1:c.61409T>A (TTN) | XP_016860309.1:p.Val20470Asp | |
| XM_017004821.1:c.61406T>A (TTN) | XP_016860310.1:p.Val20469Asp | |
| XM_017004822.1:c.58448T>A (TTN) | XP_016860311.1:p.Val19483Asp | |
| XM_017004823.1:c.40064T>A (TTN) | XP_016860312.1:p.Val13355Asp | |
| XM_024453094.1:c.61559T>A (TTN) | XP_024308862.1:p.Val20520Asp | |
| XM_024453095.1:c.61556T>A (TTN) | XP_024308863.1:p.Val20519Asp | |
| XM_024453096.1:c.60989T>A (TTN) | XP_024308864.1:p.Val20330Asp | |
| XM_024453097.1:c.58331T>A (TTN) | XP_024308865.1:p.Val19444Asp | |
| XM_024453098.1:c.58250T>A (TTN) | XP_024308866.1:p.Val19417Asp | |
| XM_024453099.1:c.40013T>A (TTN) | XP_024308867.1:p.Val13338Asp | |
| XM_024453100.1:c.29867T>A (TTN) | XP_024308868.1:p.Val9956Asp |