Linked Data
dbSNP Id:
rs752225531
ExAC:
2:179416561 C / T
gnomAD v2:
2-179416561-C-T
gnomAD v4:
2-178551834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551834C>T , CM000664.2:g.178551834C>T | GRCh38 |
| NC_000002.11:g.179416561C>T , CM000664.1:g.179416561C>T | GRCh37 |
| NC_000002.10:g.179124807C>T | NCBI36 |
| NG_011618.3:g.283969G>A , LRG_391:g.283969G>A | |
| NG_051363.1:g.34008C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.83362G>A (TTN) | ENSP00000343764.6:p.Val27788Ile | |
| ENST00000342175.11:c.64447G>A (TTN) | ENSP00000340554.6:p.Val21483Ile | |
| ENST00000359218.10:c.64246G>A (TTN) | ENSP00000352154.5:p.Val21416Ile | |
| ENST00000342175.10:c.64447G>A (TTN) | ENSP00000340554.6:p.Val21483Ile | |
| ENST00000342992.10:c.83362G>A (TTN) | ENSP00000343764.6:p.Val27788Ile | |
| ENST00000359218.9:c.64246G>A (TTN) | ENSP00000352154.5:p.Val21416Ile | |
| ENST00000460472.6:c.63871G>A (TTN) | ENSP00000434586.1:p.Val21291Ile | |
| ENST00000589042.5:c.91066G>A (TTN) MANE Select | ENSP00000467141.1:p.Val30356Ile | |
| ENST00000591111.5:c.86143G>A (TTN) | ENSP00000465570.1:p.Val28715Ile | |
| ENST00000615779.4:c.86143G>A (TTN) | ENSP00000483597.1:p.Val28715Ile | |
| NM_001256850.1:c.86143G>A (TTN) | NP_001243779.1:p.Val28715Ile | |
| NM_001267550.2:c.91066G>A (TTN) MANE Select | NP_001254479.2:p.Val30356Ile | |
| NM_003319.4:c.63871G>A (TTN) | NP_003310.4:p.Val21291Ile | |
| NM_133378.4:c.83362G>A (TTN) | NP_596869.4:p.Val27788Ile | |
| NM_133432.3:c.64246G>A (TTN) | NP_597676.3:p.Val21416Ile | |
| NM_133437.4:c.64447G>A (TTN) | NP_597681.4:p.Val21483Ile | |
| NR_038271.1:n.447-19466C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+9473C>T (TTN-AS1) | ||
| XM_011511729.1:c.90163G>A (TTN) | XP_011510031.1:p.Val30055Ile | |
| XM_011511730.1:c.64057G>A (TTN) | XP_011510032.1:p.Val21353Ile | |
| XM_011511731.1:c.63916G>A (TTN) | XP_011510033.1:p.Val21306Ile | |
| XM_017004819.1:c.89959G>A (TTN) | XP_016860308.1:p.Val29987Ile | |
| XM_017004820.1:c.85357G>A (TTN) | XP_016860309.1:p.Val28453Ile | |
| XM_017004821.1:c.85354G>A (TTN) | XP_016860310.1:p.Val28452Ile | |
| XM_017004822.1:c.82396G>A (TTN) | XP_016860311.1:p.Val27466Ile | |
| XM_017004823.1:c.64012G>A (TTN) | XP_016860312.1:p.Val21338Ile | |
| XM_024453094.1:c.85507G>A (TTN) | XP_024308862.1:p.Val28503Ile | |
| XM_024453095.1:c.85504G>A (TTN) | XP_024308863.1:p.Val28502Ile | |
| XM_024453096.1:c.84937G>A (TTN) | XP_024308864.1:p.Val28313Ile | |
| XM_024453097.1:c.82279G>A (TTN) | XP_024308865.1:p.Val27427Ile | |
| XM_024453098.1:c.82198G>A (TTN) | XP_024308866.1:p.Val27400Ile | |
| XM_024453099.1:c.63961G>A (TTN) | XP_024308867.1:p.Val21321Ile | |
| XM_024453100.1:c.53815G>A (TTN) | XP_024308868.1:p.Val17939Ile |