Linked Data
ClinVar Variation Id:
1329220
dbSNP Id:
rs140081451
gnomAD v2:
2-179411444-C-T
gnomAD v3:
2-178546717-C-T
gnomAD v4:
2-178546717-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546717C>T , CM000664.2:g.178546717C>T | GRCh38 |
| NC_000002.11:g.179411444C>T , CM000664.1:g.179411444C>T | GRCh37 |
| NC_000002.10:g.179119690C>T | NCBI36 |
| NG_011618.3:g.289086G>A , LRG_391:g.289086G>A | |
| NG_051363.1:g.28891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87007G>A (TTN) | ENSP00000343764.6:p.Val29003Met | |
| ENST00000342175.11:c.68092G>A (TTN) | ENSP00000340554.6:p.Val22698Met | |
| ENST00000359218.10:c.67891G>A (TTN) | ENSP00000352154.5:p.Val22631Met | |
| ENST00000342175.10:c.68092G>A (TTN) | ENSP00000340554.6:p.Val22698Met | |
| ENST00000342992.10:c.87007G>A (TTN) | ENSP00000343764.6:p.Val29003Met | |
| ENST00000359218.9:c.67891G>A (TTN) | ENSP00000352154.5:p.Val22631Met | |
| ENST00000460472.6:c.67516G>A (TTN) | ENSP00000434586.1:p.Val22506Met | |
| ENST00000589042.5:c.94711G>A (TTN) MANE Select | ENSP00000467141.1:p.Val31571Met | |
| ENST00000591111.5:c.89788G>A (TTN) | ENSP00000465570.1:p.Val29930Met | |
| ENST00000615779.4:c.89788G>A (TTN) | ENSP00000483597.1:p.Val29930Met | |
| NM_001256850.1:c.89788G>A (TTN) | NP_001243779.1:p.Val29930Met | |
| NM_001267550.2:c.94711G>A (TTN) MANE Select | NP_001254479.2:p.Val31571Met | |
| NM_003319.4:c.67516G>A (TTN) | NP_003310.4:p.Val22506Met | |
| NM_133378.4:c.87007G>A (TTN) | NP_596869.4:p.Val29003Met | |
| NM_133432.3:c.67891G>A (TTN) | NP_597676.3:p.Val22631Met | |
| NM_133437.4:c.68092G>A (TTN) | NP_597681.4:p.Val22698Met | |
| NR_038271.1:n.446+23081C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4356C>T (TTN-AS1) | ||
| XM_011511729.1:c.93808G>A (TTN) | XP_011510031.1:p.Val31270Met | |
| XM_011511730.1:c.67702G>A (TTN) | XP_011510032.1:p.Val22568Met | |
| XM_011511731.1:c.67561G>A (TTN) | XP_011510033.1:p.Val22521Met | |
| XM_017004819.1:c.93604G>A (TTN) | XP_016860308.1:p.Val31202Met | |
| XM_017004820.1:c.89002G>A (TTN) | XP_016860309.1:p.Val29668Met | |
| XM_017004821.1:c.88999G>A (TTN) | XP_016860310.1:p.Val29667Met | |
| XM_017004822.1:c.86041G>A (TTN) | XP_016860311.1:p.Val28681Met | |
| XM_017004823.1:c.67657G>A (TTN) | XP_016860312.1:p.Val22553Met | |
| XM_024453094.1:c.89152G>A (TTN) | XP_024308862.1:p.Val29718Met | |
| XM_024453095.1:c.89149G>A (TTN) | XP_024308863.1:p.Val29717Met | |
| XM_024453096.1:c.88582G>A (TTN) | XP_024308864.1:p.Val29528Met | |
| XM_024453097.1:c.85924G>A (TTN) | XP_024308865.1:p.Val28642Met | |
| XM_024453098.1:c.85843G>A (TTN) | XP_024308866.1:p.Val28615Met | |
| XM_024453099.1:c.67606G>A (TTN) | XP_024308867.1:p.Val22536Met | |
| XM_024453100.1:c.57460G>A (TTN) | XP_024308868.1:p.Val19154Met |