Linked Data
ClinVar Variation Id:
404970
dbSNP Id:
rs771710562
ExAC:
2:179442018 G / A
gnomAD v2:
2-179442018-G-A
gnomAD v3:
2-178577291-G-A
gnomAD v4:
2-178577291-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577291G>A , CM000664.2:g.178577291G>A | GRCh38 |
| NC_000002.11:g.179442018G>A , CM000664.1:g.179442018G>A | GRCh37 |
| NC_000002.10:g.179150264G>A | NCBI36 |
| NG_011618.3:g.258512C>T , LRG_391:g.258512C>T | |
| NG_051363.1:g.59465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61340C>T (TTN) | ENSP00000343764.6:p.Ala20447Val | |
| ENST00000342175.11:c.42425C>T (TTN) | ENSP00000340554.6:p.Ala14142Val | |
| ENST00000359218.10:c.42224C>T (TTN) | ENSP00000352154.5:p.Ala14075Val | |
| ENST00000342175.10:c.42425C>T (TTN) | ENSP00000340554.6:p.Ala14142Val | |
| ENST00000342992.10:c.61340C>T (TTN) | ENSP00000343764.6:p.Ala20447Val | |
| ENST00000359218.9:c.42224C>T (TTN) | ENSP00000352154.5:p.Ala14075Val | |
| ENST00000460472.6:c.41849C>T (TTN) | ENSP00000434586.1:p.Ala13950Val | |
| ENST00000589042.5:c.69044C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala23015Val | |
| ENST00000591111.5:c.64121C>T (TTN) | ENSP00000465570.1:p.Ala21374Val | |
| ENST00000615779.4:c.64121C>T (TTN) | ENSP00000483597.1:p.Ala21374Val | |
| NM_001256850.1:c.64121C>T (TTN) | NP_001243779.1:p.Ala21374Val | |
| NM_001267550.2:c.69044C>T (TTN) MANE Select | NP_001254479.2:p.Ala23015Val | |
| NM_003319.4:c.41849C>T (TTN) | NP_003310.4:p.Ala13950Val | |
| NM_133378.4:c.61340C>T (TTN) | NP_596869.4:p.Ala20447Val | |
| NM_133432.3:c.42224C>T (TTN) | NP_597676.3:p.Ala14075Val | |
| NM_133437.4:c.42425C>T (TTN) | NP_597681.4:p.Ala14142Val | |
| NR_038271.1:n.596+5842G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-5281G>A (TTN-AS1) | ||
| XM_011511729.1:c.68141C>T (TTN) | XP_011510031.1:p.Ala22714Val | |
| XM_011511730.1:c.42035C>T (TTN) | XP_011510032.1:p.Ala14012Val | |
| XM_011511731.1:c.41894C>T (TTN) | XP_011510033.1:p.Ala13965Val | |
| XM_017004819.1:c.67937C>T (TTN) | XP_016860308.1:p.Ala22646Val | |
| XM_017004820.1:c.63335C>T (TTN) | XP_016860309.1:p.Ala21112Val | |
| XM_017004821.1:c.63332C>T (TTN) | XP_016860310.1:p.Ala21111Val | |
| XM_017004822.1:c.60374C>T (TTN) | XP_016860311.1:p.Ala20125Val | |
| XM_017004823.1:c.41990C>T (TTN) | XP_016860312.1:p.Ala13997Val | |
| XM_024453094.1:c.63485C>T (TTN) | XP_024308862.1:p.Ala21162Val | |
| XM_024453095.1:c.63482C>T (TTN) | XP_024308863.1:p.Ala21161Val | |
| XM_024453096.1:c.62915C>T (TTN) | XP_024308864.1:p.Ala20972Val | |
| XM_024453097.1:c.60257C>T (TTN) | XP_024308865.1:p.Ala20086Val | |
| XM_024453098.1:c.60176C>T (TTN) | XP_024308866.1:p.Ala20059Val | |
| XM_024453099.1:c.41939C>T (TTN) | XP_024308867.1:p.Ala13980Val | |
| XM_024453100.1:c.31793C>T (TTN) | XP_024308868.1:p.Ala10598Val |