Linked Data
ClinVar Variation Id:
202374
dbSNP Id:
rs794729263
gnomAD v3:
2-178613939-T-A
gnomAD v4:
2-178613939-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613939T>A , CM000664.2:g.178613939T>A | GRCh38 |
| NC_000002.11:g.179478666T>A , CM000664.1:g.179478666T>A | GRCh37 |
| NC_000002.10:g.179186911T>A | NCBI36 |
| NG_011618.3:g.221864A>T , LRG_391:g.221864A>T | |
| NG_051363.1:g.96113T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41642-2A>T (TTN) | ENSP00000343764.6:n.41642-2A>T | |
| ENST00000342175.11:c.22727-2A>T (TTN) | ENSP00000340554.6:n.22727-2A>T | |
| ENST00000359218.10:c.22526-2A>T (TTN) | ENSP00000352154.5:n.22526-2A>T | |
| ENST00000342175.10:c.22727-2A>T (TTN) | ENSP00000340554.6:n.22727-2A>T | |
| ENST00000342992.10:c.41642-2A>T (TTN) | ENSP00000343764.6:n.41642-2A>T | |
| ENST00000359218.9:c.22526-2A>T (TTN) | ENSP00000352154.5:n.22526-2A>T | |
| ENST00000460472.6:c.22151-2A>T (TTN) | ENSP00000434586.1:n.22151-2A>T | |
| ENST00000589042.5:c.49346-2A>T (TTN) MANE Select | ENSP00000467141.1:n.49346-2A>T | |
| ENST00000591111.5:c.44423-2A>T (TTN) | ENSP00000465570.1:n.44423-2A>T | |
| ENST00000615779.4:c.44423-2A>T (TTN) | ENSP00000483597.1:n.44423-2A>T | |
| NM_001256850.1:c.44423-2A>T (TTN) | NP_001243779.1:n.44423-2A>T | |
| NM_001267550.2:c.49346-2A>T (TTN) MANE Select | NP_001254479.2:n.49346-2A>T | |
| NM_003319.4:c.22151-2A>T (TTN) | NP_003310.4:n.22151-2A>T | |
| NM_133378.4:c.41642-2A>T (TTN) | NP_596869.4:n.41642-2A>T | |
| NM_133432.3:c.22526-2A>T (TTN) | NP_597676.3:n.22526-2A>T | |
| NM_133437.4:c.22727-2A>T (TTN) | NP_597681.4:n.22727-2A>T | |
| NR_038271.1:n.783-96T>A (TTN-AS1) | ||
| XM_011511729.1:c.48443-2A>T (TTN) | XP_011510031.1:n.48443-2A>T | |
| XM_011511730.1:c.22337-2A>T (TTN) | XP_011510032.1:n.22337-2A>T | |
| XM_011511731.1:c.22196-2A>T (TTN) | XP_011510033.1:n.22196-2A>T | |
| XM_017004819.1:c.48239-2A>T (TTN) | XP_016860308.1:n.48239-2A>T | |
| XM_017004820.1:c.43637-2A>T (TTN) | XP_016860309.1:n.43637-2A>T | |
| XM_017004821.1:c.43634-2A>T (TTN) | XP_016860310.1:n.43634-2A>T | |
| XM_017004822.1:c.40676-2A>T (TTN) | XP_016860311.1:n.40676-2A>T | |
| XM_017004823.1:c.22292-2A>T (TTN) | XP_016860312.1:n.22292-2A>T | |
| XM_024453094.1:c.43787-2A>T (TTN) | XP_024308862.1:n.43787-2A>T | |
| XM_024453095.1:c.43784-2A>T (TTN) | XP_024308863.1:n.43784-2A>T | |
| XM_024453096.1:c.43217-2A>T (TTN) | XP_024308864.1:n.43217-2A>T | |
| XM_024453097.1:c.40559-2A>T (TTN) | XP_024308865.1:n.40559-2A>T | |
| XM_024453098.1:c.40478-2A>T (TTN) | XP_024308866.1:n.40478-2A>T | |
| XM_024453099.1:c.22241-2A>T (TTN) | XP_024308867.1:n.22241-2A>T | |
| XM_024453100.1:c.12095-2A>T (TTN) | XP_024308868.1:n.12095-2A>T |