Linked Data
ClinVar Variation Id:
179458
dbSNP Id:
rs727504878
ExAC:
2:179482698 C / T
gnomAD v2:
2-179482698-C-T
gnomAD v3:
2-178617971-C-T
gnomAD v4:
2-178617971-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617971C>T , CM000664.2:g.178617971C>T | GRCh38 |
| NC_000002.11:g.179482698C>T , CM000664.1:g.179482698C>T | GRCh37 |
| NC_000002.10:g.179190943C>T | NCBI36 |
| NG_011618.3:g.217832G>A , LRG_391:g.217832G>A | |
| NG_051363.1:g.100145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39676G>A (TTN) | ENSP00000343764.6:p.Val13226Ile | |
| ENST00000342175.11:c.20761G>A (TTN) | ENSP00000340554.6:p.Val6921Ile | |
| ENST00000359218.10:c.20560G>A (TTN) | ENSP00000352154.5:p.Val6854Ile | |
| ENST00000342175.10:c.20761G>A (TTN) | ENSP00000340554.6:p.Val6921Ile | |
| ENST00000342992.10:c.39676G>A (TTN) | ENSP00000343764.6:p.Val13226Ile | |
| ENST00000359218.9:c.20560G>A (TTN) | ENSP00000352154.5:p.Val6854Ile | |
| ENST00000460472.6:c.20185G>A (TTN) | ENSP00000434586.1:p.Val6729Ile | |
| ENST00000589042.5:c.47380G>A (TTN) MANE Select | ENSP00000467141.1:p.Val15794Ile | |
| ENST00000591111.5:c.42457G>A (TTN) | ENSP00000465570.1:p.Val14153Ile | |
| ENST00000615779.4:c.42457G>A (TTN) | ENSP00000483597.1:p.Val14153Ile | |
| NM_001256850.1:c.42457G>A (TTN) | NP_001243779.1:p.Val14153Ile | |
| NM_001267550.2:c.47380G>A (TTN) MANE Select | NP_001254479.2:p.Val15794Ile | |
| NM_003319.4:c.20185G>A (TTN) | NP_003310.4:p.Val6729Ile | |
| NM_133378.4:c.39676G>A (TTN) | NP_596869.4:p.Val13226Ile | |
| NM_133432.3:c.20560G>A (TTN) | NP_597676.3:p.Val6854Ile | |
| NM_133437.4:c.20761G>A (TTN) | NP_597681.4:p.Val6921Ile | |
| NR_038271.1:n.1605-1782C>T (TTN-AS1) | ||
| XM_011511729.1:c.46477G>A (TTN) | XP_011510031.1:p.Val15493Ile | |
| XM_011511730.1:c.20371G>A (TTN) | XP_011510032.1:p.Val6791Ile | |
| XM_011511731.1:c.20230G>A (TTN) | XP_011510033.1:p.Val6744Ile | |
| XM_017004819.1:c.46273G>A (TTN) | XP_016860308.1:p.Val15425Ile | |
| XM_017004820.1:c.41671G>A (TTN) | XP_016860309.1:p.Val13891Ile | |
| XM_017004821.1:c.41668G>A (TTN) | XP_016860310.1:p.Val13890Ile | |
| XM_017004822.1:c.38710G>A (TTN) | XP_016860311.1:p.Val12904Ile | |
| XM_017004823.1:c.20326G>A (TTN) | XP_016860312.1:p.Val6776Ile | |
| XM_024453094.1:c.41821G>A (TTN) | XP_024308862.1:p.Val13941Ile | |
| XM_024453095.1:c.41818G>A (TTN) | XP_024308863.1:p.Val13940Ile | |
| XM_024453096.1:c.41251G>A (TTN) | XP_024308864.1:p.Val13751Ile | |
| XM_024453097.1:c.38593G>A (TTN) | XP_024308865.1:p.Val12865Ile | |
| XM_024453098.1:c.38512G>A (TTN) | XP_024308866.1:p.Val12838Ile | |
| XM_024453099.1:c.20275G>A (TTN) | XP_024308867.1:p.Val6759Ile | |
| XM_024453100.1:c.10129G>A (TTN) | XP_024308868.1:p.Val3377Ile |