Linked Data
ClinVar Variation Id:
281260
dbSNP Id:
rs758279518
ExAC:
2:179444665 C / T
gnomAD v2:
2-179444665-C-T
gnomAD v4:
2-178579938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579938C>T , CM000664.2:g.178579938C>T | GRCh38 |
| NC_000002.11:g.179444665C>T , CM000664.1:g.179444665C>T | GRCh37 |
| NC_000002.10:g.179152911C>T | NCBI36 |
| NG_011618.3:g.255865G>A , LRG_391:g.255865G>A | |
| NG_051363.1:g.62112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59644+1G>A (TTN) | ENSP00000343764.6:n.59644+1G>A | |
| ENST00000342175.11:c.40729+1G>A (TTN) | ENSP00000340554.6:n.40729+1G>A | |
| ENST00000359218.10:c.40528+1G>A (TTN) | ENSP00000352154.5:n.40528+1G>A | |
| ENST00000342175.10:c.40729+1G>A (TTN) | ENSP00000340554.6:n.40729+1G>A | |
| ENST00000342992.10:c.59644+1G>A (TTN) | ENSP00000343764.6:n.59644+1G>A | |
| ENST00000359218.9:c.40528+1G>A (TTN) | ENSP00000352154.5:n.40528+1G>A | |
| ENST00000460472.6:c.40153+1G>A (TTN) | ENSP00000434586.1:n.40153+1G>A | |
| ENST00000589042.5:c.67348+1G>A (TTN) MANE Select | ENSP00000467141.1:n.67348+1G>A | |
| ENST00000591111.5:c.62425+1G>A (TTN) | ENSP00000465570.1:n.62425+1G>A | |
| ENST00000615779.4:c.62425+1G>A (TTN) | ENSP00000483597.1:n.62425+1G>A | |
| NM_001256850.1:c.62425+1G>A (TTN) | NP_001243779.1:n.62425+1G>A | |
| NM_001267550.2:c.67348+1G>A (TTN) MANE Select | NP_001254479.2:n.67348+1G>A | |
| NM_003319.4:c.40153+1G>A (TTN) | NP_003310.4:n.40153+1G>A | |
| NM_133378.4:c.59644+1G>A (TTN) | NP_596869.4:n.59644+1G>A | |
| NM_133432.3:c.40528+1G>A (TTN) | NP_597676.3:n.40528+1G>A | |
| NM_133437.4:c.40729+1G>A (TTN) | NP_597681.4:n.40729+1G>A | |
| NR_038271.1:n.596+8489C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-2634C>T (TTN-AS1) | ||
| XM_011511729.1:c.66445+1G>A (TTN) | XP_011510031.1:n.66445+1G>A | |
| XM_011511730.1:c.40339+1G>A (TTN) | XP_011510032.1:n.40339+1G>A | |
| XM_011511731.1:c.40198+1G>A (TTN) | XP_011510033.1:n.40198+1G>A | |
| XM_017004819.1:c.66241+1G>A (TTN) | XP_016860308.1:n.66241+1G>A | |
| XM_017004820.1:c.61639+1G>A (TTN) | XP_016860309.1:n.61639+1G>A | |
| XM_017004821.1:c.61636+1G>A (TTN) | XP_016860310.1:n.61636+1G>A | |
| XM_017004822.1:c.58678+1G>A (TTN) | XP_016860311.1:n.58678+1G>A | |
| XM_017004823.1:c.40294+1G>A (TTN) | XP_016860312.1:n.40294+1G>A | |
| XM_024453094.1:c.61789+1G>A (TTN) | XP_024308862.1:n.61789+1G>A | |
| XM_024453095.1:c.61786+1G>A (TTN) | XP_024308863.1:n.61786+1G>A | |
| XM_024453096.1:c.61219+1G>A (TTN) | XP_024308864.1:n.61219+1G>A | |
| XM_024453097.1:c.58561+1G>A (TTN) | XP_024308865.1:n.58561+1G>A | |
| XM_024453098.1:c.58480+1G>A (TTN) | XP_024308866.1:n.58480+1G>A | |
| XM_024453099.1:c.40243+1G>A (TTN) | XP_024308867.1:n.40243+1G>A | |
| XM_024453100.1:c.30097+1G>A (TTN) | XP_024308868.1:n.30097+1G>A |