Linked Data
ClinVar Variation Id:
223309
dbSNP Id:
rs869312070
gnomAD v2:
2-179478665-C-T
gnomAD v4:
2-178613938-C-T
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613938C>T , CM000664.2:g.178613938C>T | GRCh38 |
| NC_000002.11:g.179478665C>T , CM000664.1:g.179478665C>T | GRCh37 |
| NC_000002.10:g.179186910C>T | NCBI36 |
| NG_011618.3:g.221865G>A , LRG_391:g.221865G>A | |
| NG_051363.1:g.96112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41642-1G>A (TTN) | ENSP00000343764.6:n.41642-1G>A | |
| ENST00000342175.11:c.22727-1G>A (TTN) | ENSP00000340554.6:n.22727-1G>A | |
| ENST00000359218.10:c.22526-1G>A (TTN) | ENSP00000352154.5:n.22526-1G>A | |
| ENST00000342175.10:c.22727-1G>A (TTN) | ENSP00000340554.6:n.22727-1G>A | |
| ENST00000342992.10:c.41642-1G>A (TTN) | ENSP00000343764.6:n.41642-1G>A | |
| ENST00000359218.9:c.22526-1G>A (TTN) | ENSP00000352154.5:n.22526-1G>A | |
| ENST00000460472.6:c.22151-1G>A (TTN) | ENSP00000434586.1:n.22151-1G>A | |
| ENST00000589042.5:c.49346-1G>A (TTN) MANE Select | ENSP00000467141.1:n.49346-1G>A | |
| ENST00000591111.5:c.44423-1G>A (TTN) | ENSP00000465570.1:n.44423-1G>A | |
| ENST00000615779.4:c.44423-1G>A (TTN) | ENSP00000483597.1:n.44423-1G>A | |
| NM_001256850.1:c.44423-1G>A (TTN) | NP_001243779.1:n.44423-1G>A | |
| NM_001267550.2:c.49346-1G>A (TTN) MANE Select | NP_001254479.2:n.49346-1G>A | |
| NM_003319.4:c.22151-1G>A (TTN) | NP_003310.4:n.22151-1G>A | |
| NM_133378.4:c.41642-1G>A (TTN) | NP_596869.4:n.41642-1G>A | |
| NM_133432.3:c.22526-1G>A (TTN) | NP_597676.3:n.22526-1G>A | |
| NM_133437.4:c.22727-1G>A (TTN) | NP_597681.4:n.22727-1G>A | |
| NR_038271.1:n.783-97C>T (TTN-AS1) | ||
| XM_011511729.1:c.48443-1G>A (TTN) | XP_011510031.1:n.48443-1G>A | |
| XM_011511730.1:c.22337-1G>A (TTN) | XP_011510032.1:n.22337-1G>A | |
| XM_011511731.1:c.22196-1G>A (TTN) | XP_011510033.1:n.22196-1G>A | |
| XM_017004819.1:c.48239-1G>A (TTN) | XP_016860308.1:n.48239-1G>A | |
| XM_017004820.1:c.43637-1G>A (TTN) | XP_016860309.1:n.43637-1G>A | |
| XM_017004821.1:c.43634-1G>A (TTN) | XP_016860310.1:n.43634-1G>A | |
| XM_017004822.1:c.40676-1G>A (TTN) | XP_016860311.1:n.40676-1G>A | |
| XM_017004823.1:c.22292-1G>A (TTN) | XP_016860312.1:n.22292-1G>A | |
| XM_024453094.1:c.43787-1G>A (TTN) | XP_024308862.1:n.43787-1G>A | |
| XM_024453095.1:c.43784-1G>A (TTN) | XP_024308863.1:n.43784-1G>A | |
| XM_024453096.1:c.43217-1G>A (TTN) | XP_024308864.1:n.43217-1G>A | |
| XM_024453097.1:c.40559-1G>A (TTN) | XP_024308865.1:n.40559-1G>A | |
| XM_024453098.1:c.40478-1G>A (TTN) | XP_024308866.1:n.40478-1G>A | |
| XM_024453099.1:c.22241-1G>A (TTN) | XP_024308867.1:n.22241-1G>A | |
| XM_024453100.1:c.12095-1G>A (TTN) | XP_024308868.1:n.12095-1G>A |