Linked Data
ClinVar Variation Id:
196725
dbSNP Id:
rs374859388
ExAC:
2:179392262 A / G
gnomAD v2:
2-179392262-A-G
gnomAD v3:
2-178527535-A-G
gnomAD v4:
2-178527535-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527535A>G , CM000664.2:g.178527535A>G | GRCh38 |
| NC_000002.11:g.179392262A>G , CM000664.1:g.179392262A>G | GRCh37 |
| NC_000002.10:g.179100508A>G | NCBI36 |
| NG_011618.3:g.308268T>C , LRG_391:g.308268T>C | |
| NG_051363.1:g.9709A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99887T>C (TTN) | ENSP00000343764.6:p.Val33296Ala | |
| ENST00000342175.11:c.80972T>C (TTN) | ENSP00000340554.6:p.Val26991Ala | |
| ENST00000359218.10:c.80771T>C (TTN) | ENSP00000352154.5:p.Val26924Ala | |
| ENST00000342175.10:c.80972T>C (TTN) | ENSP00000340554.6:p.Val26991Ala | |
| ENST00000342992.10:c.99887T>C (TTN) | ENSP00000343764.6:p.Val33296Ala | |
| ENST00000359218.9:c.80771T>C (TTN) | ENSP00000352154.5:p.Val26924Ala | |
| ENST00000460472.6:c.80396T>C (TTN) | ENSP00000434586.1:p.Val26799Ala | |
| ENST00000589042.5:c.107591T>C (TTN) MANE Select | ENSP00000467141.1:p.Val35864Ala | |
| ENST00000591111.5:c.102668T>C (TTN) | ENSP00000465570.1:p.Val34223Ala | |
| ENST00000615779.4:c.102668T>C (TTN) | ENSP00000483597.1:p.Val34223Ala | |
| NM_001256850.1:c.102668T>C (TTN) | NP_001243779.1:p.Val34223Ala | |
| NM_001267550.2:c.107591T>C (TTN) MANE Select | NP_001254479.2:p.Val35864Ala | |
| NM_003319.4:c.80396T>C (TTN) | NP_003310.4:p.Val26799Ala | |
| NM_133378.4:c.99887T>C (TTN) | NP_596869.4:p.Val33296Ala | |
| NM_133432.3:c.80771T>C (TTN) | NP_597676.3:p.Val26924Ala | |
| NM_133437.4:c.80972T>C (TTN) | NP_597681.4:p.Val26991Ala | |
| NR_038271.1:n.446+3899A>G (TTN-AS1) | ||
| NR_038272.1:n.219+3899A>G (TTN-AS1) | ||
| XM_011511729.1:c.106688T>C (TTN) | XP_011510031.1:p.Val35563Ala | |
| XM_011511730.1:c.80582T>C (TTN) | XP_011510032.1:p.Val26861Ala | |
| XM_011511731.1:c.80441T>C (TTN) | XP_011510033.1:p.Val26814Ala | |
| XM_017004819.1:c.106484T>C (TTN) | XP_016860308.1:p.Val35495Ala | |
| XM_017004820.1:c.101882T>C (TTN) | XP_016860309.1:p.Val33961Ala | |
| XM_017004821.1:c.101879T>C (TTN) | XP_016860310.1:p.Val33960Ala | |
| XM_017004822.1:c.98921T>C (TTN) | XP_016860311.1:p.Val32974Ala | |
| XM_017004823.1:c.80537T>C (TTN) | XP_016860312.1:p.Val26846Ala | |
| XM_024453094.1:c.102032T>C (TTN) | XP_024308862.1:p.Val34011Ala | |
| XM_024453095.1:c.102029T>C (TTN) | XP_024308863.1:p.Val34010Ala | |
| XM_024453096.1:c.101462T>C (TTN) | XP_024308864.1:p.Val33821Ala | |
| XM_024453097.1:c.98804T>C (TTN) | XP_024308865.1:p.Val32935Ala | |
| XM_024453098.1:c.98723T>C (TTN) | XP_024308866.1:p.Val32908Ala | |
| XM_024453099.1:c.80486T>C (TTN) | XP_024308867.1:p.Val26829Ala | |
| XM_024453100.1:c.70340T>C (TTN) | XP_024308868.1:p.Val23447Ala |