Linked Data
ClinVar Variation Id:
504748
dbSNP Id:
rs183060991
ExAC:
2:179474722 C / T
gnomAD v2:
2-179474722-C-T
gnomAD v3:
2-178609995-C-T
gnomAD v4:
2-178609995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609995C>T , CM000664.2:g.178609995C>T | GRCh38 |
| NC_000002.11:g.179474722C>T , CM000664.1:g.179474722C>T | GRCh37 |
| NC_000002.10:g.179182967C>T | NCBI36 |
| NG_011618.3:g.225808G>A , LRG_391:g.225808G>A | |
| NG_051363.1:g.92169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43733-9G>A (TTN) | ENSP00000343764.6:n.43733-9G>A | |
| ENST00000342175.11:c.24818-9G>A (TTN) | ENSP00000340554.6:n.24818-9G>A | |
| ENST00000359218.10:c.24617-9G>A (TTN) | ENSP00000352154.5:n.24617-9G>A | |
| ENST00000342175.10:c.24818-9G>A (TTN) | ENSP00000340554.6:n.24818-9G>A | |
| ENST00000342992.10:c.43733-9G>A (TTN) | ENSP00000343764.6:n.43733-9G>A | |
| ENST00000359218.9:c.24617-9G>A (TTN) | ENSP00000352154.5:n.24617-9G>A | |
| ENST00000460472.6:c.24242-9G>A (TTN) | ENSP00000434586.1:n.24242-9G>A | |
| ENST00000589042.5:c.51437-9G>A (TTN) MANE Select | ENSP00000467141.1:n.51437-9G>A | |
| ENST00000591111.5:c.46514-9G>A (TTN) | ENSP00000465570.1:n.46514-9G>A | |
| ENST00000615779.4:c.46514-9G>A (TTN) | ENSP00000483597.1:n.46514-9G>A | |
| NM_001256850.1:c.46514-9G>A (TTN) | NP_001243779.1:n.46514-9G>A | |
| NM_001267550.2:c.51437-9G>A (TTN) MANE Select | NP_001254479.2:n.51437-9G>A | |
| NM_003319.4:c.24242-9G>A (TTN) | NP_003310.4:n.24242-9G>A | |
| NM_133378.4:c.43733-9G>A (TTN) | NP_596869.4:n.43733-9G>A | |
| NM_133432.3:c.24617-9G>A (TTN) | NP_597676.3:n.24617-9G>A | |
| NM_133437.4:c.24818-9G>A (TTN) | NP_597681.4:n.24818-9G>A | |
| NR_038271.1:n.782+1729C>T (TTN-AS1) | ||
| XM_011511729.1:c.50534-9G>A (TTN) | XP_011510031.1:n.50534-9G>A | |
| XM_011511730.1:c.24428-9G>A (TTN) | XP_011510032.1:n.24428-9G>A | |
| XM_011511731.1:c.24287-9G>A (TTN) | XP_011510033.1:n.24287-9G>A | |
| XM_017004819.1:c.50330-9G>A (TTN) | XP_016860308.1:n.50330-9G>A | |
| XM_017004820.1:c.45728-9G>A (TTN) | XP_016860309.1:n.45728-9G>A | |
| XM_017004821.1:c.45725-9G>A (TTN) | XP_016860310.1:n.45725-9G>A | |
| XM_017004822.1:c.42767-9G>A (TTN) | XP_016860311.1:n.42767-9G>A | |
| XM_017004823.1:c.24383-9G>A (TTN) | XP_016860312.1:n.24383-9G>A | |
| XM_024453094.1:c.45878-9G>A (TTN) | XP_024308862.1:n.45878-9G>A | |
| XM_024453095.1:c.45875-9G>A (TTN) | XP_024308863.1:n.45875-9G>A | |
| XM_024453096.1:c.45308-9G>A (TTN) | XP_024308864.1:n.45308-9G>A | |
| XM_024453097.1:c.42650-9G>A (TTN) | XP_024308865.1:n.42650-9G>A | |
| XM_024453098.1:c.42569-9G>A (TTN) | XP_024308866.1:n.42569-9G>A | |
| XM_024453099.1:c.24332-9G>A (TTN) | XP_024308867.1:n.24332-9G>A | |
| XM_024453100.1:c.14186-9G>A (TTN) | XP_024308868.1:n.14186-9G>A |