Linked Data
ClinVar Variation Id:
167773
dbSNP Id:
rs376053678
ExAC:
2:179444124 T / C
gnomAD v2:
2-179444124-T-C
gnomAD v3:
2-178579397-T-C
gnomAD v4:
2-178579397-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579397T>C , CM000664.2:g.178579397T>C | GRCh38 |
| NC_000002.11:g.179444124T>C , CM000664.1:g.179444124T>C | GRCh37 |
| NC_000002.10:g.179152370T>C | NCBI36 |
| NG_011618.3:g.256406A>G , LRG_391:g.256406A>G | |
| NG_051363.1:g.61571T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59933-4A>G (TTN) | ENSP00000343764.6:n.59933-4A>G | |
| ENST00000342175.11:c.41018-4A>G (TTN) | ENSP00000340554.6:n.41018-4A>G | |
| ENST00000359218.10:c.40817-4A>G (TTN) | ENSP00000352154.5:n.40817-4A>G | |
| ENST00000342175.10:c.41018-4A>G (TTN) | ENSP00000340554.6:n.41018-4A>G | |
| ENST00000342992.10:c.59933-4A>G (TTN) | ENSP00000343764.6:n.59933-4A>G | |
| ENST00000359218.9:c.40817-4A>G (TTN) | ENSP00000352154.5:n.40817-4A>G | |
| ENST00000460472.6:c.40442-4A>G (TTN) | ENSP00000434586.1:n.40442-4A>G | |
| ENST00000589042.5:c.67637-4A>G (TTN) MANE Select | ENSP00000467141.1:n.67637-4A>G | |
| ENST00000591111.5:c.62714-4A>G (TTN) | ENSP00000465570.1:n.62714-4A>G | |
| ENST00000615779.4:c.62714-4A>G (TTN) | ENSP00000483597.1:n.62714-4A>G | |
| NM_001256850.1:c.62714-4A>G (TTN) | NP_001243779.1:n.62714-4A>G | |
| NM_001267550.2:c.67637-4A>G (TTN) MANE Select | NP_001254479.2:n.67637-4A>G | |
| NM_003319.4:c.40442-4A>G (TTN) | NP_003310.4:n.40442-4A>G | |
| NM_133378.4:c.59933-4A>G (TTN) | NP_596869.4:n.59933-4A>G | |
| NM_133432.3:c.40817-4A>G (TTN) | NP_597676.3:n.40817-4A>G | |
| NM_133437.4:c.41018-4A>G (TTN) | NP_597681.4:n.41018-4A>G | |
| NR_038271.1:n.596+7948T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-3175T>C (TTN-AS1) | ||
| XM_011511729.1:c.66734-4A>G (TTN) | XP_011510031.1:n.66734-4A>G | |
| XM_011511730.1:c.40628-4A>G (TTN) | XP_011510032.1:n.40628-4A>G | |
| XM_011511731.1:c.40487-4A>G (TTN) | XP_011510033.1:n.40487-4A>G | |
| XM_017004819.1:c.66530-4A>G (TTN) | XP_016860308.1:n.66530-4A>G | |
| XM_017004820.1:c.61928-4A>G (TTN) | XP_016860309.1:n.61928-4A>G | |
| XM_017004821.1:c.61925-4A>G (TTN) | XP_016860310.1:n.61925-4A>G | |
| XM_017004822.1:c.58967-4A>G (TTN) | XP_016860311.1:n.58967-4A>G | |
| XM_017004823.1:c.40583-4A>G (TTN) | XP_016860312.1:n.40583-4A>G | |
| XM_024453094.1:c.62078-4A>G (TTN) | XP_024308862.1:n.62078-4A>G | |
| XM_024453095.1:c.62075-4A>G (TTN) | XP_024308863.1:n.62075-4A>G | |
| XM_024453096.1:c.61508-4A>G (TTN) | XP_024308864.1:n.61508-4A>G | |
| XM_024453097.1:c.58850-4A>G (TTN) | XP_024308865.1:n.58850-4A>G | |
| XM_024453098.1:c.58769-4A>G (TTN) | XP_024308866.1:n.58769-4A>G | |
| XM_024453099.1:c.40532-4A>G (TTN) | XP_024308867.1:n.40532-4A>G | |
| XM_024453100.1:c.30386-4A>G (TTN) | XP_024308868.1:n.30386-4A>G |