Linked Data
ClinVar Variation Id:
373074
dbSNP Id:
rs1057518195
gnomAD v2:
2-179400517-G-A
gnomAD v4:
2-178535790-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535790G>A , CM000664.2:g.178535790G>A | GRCh38 |
| NC_000002.11:g.179400517G>A , CM000664.1:g.179400517G>A | GRCh37 |
| NC_000002.10:g.179108763G>A | NCBI36 |
| NG_011618.3:g.300013C>T , LRG_391:g.300013C>T | |
| NG_051363.1:g.17964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93121C>T (TTN) | ENSP00000343764.6:p.Arg31041Ter | |
| ENST00000342175.11:c.74206C>T (TTN) | ENSP00000340554.6:p.Arg24736Ter | |
| ENST00000359218.10:c.74005C>T (TTN) | ENSP00000352154.5:p.Arg24669Ter | |
| ENST00000342175.10:c.74206C>T (TTN) | ENSP00000340554.6:p.Arg24736Ter | |
| ENST00000342992.10:c.93121C>T (TTN) | ENSP00000343764.6:p.Arg31041Ter | |
| ENST00000359218.9:c.74005C>T (TTN) | ENSP00000352154.5:p.Arg24669Ter | |
| ENST00000460472.6:c.73630C>T (TTN) | ENSP00000434586.1:p.Arg24544Ter | |
| ENST00000589042.5:c.100825C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg33609Ter | |
| ENST00000591111.5:c.95902C>T (TTN) | ENSP00000465570.1:p.Arg31968Ter | |
| ENST00000615779.4:c.95902C>T (TTN) | ENSP00000483597.1:p.Arg31968Ter | |
| NM_001256850.1:c.95902C>T (TTN) | NP_001243779.1:p.Arg31968Ter | |
| NM_001267550.2:c.100825C>T (TTN) MANE Select | NP_001254479.2:p.Arg33609Ter | |
| NM_003319.4:c.73630C>T (TTN) | NP_003310.4:p.Arg24544Ter | |
| NM_133378.4:c.93121C>T (TTN) | NP_596869.4:p.Arg31041Ter | |
| NM_133432.3:c.74005C>T (TTN) | NP_597676.3:p.Arg24669Ter | |
| NM_133437.4:c.74206C>T (TTN) | NP_597681.4:p.Arg24736Ter | |
| NR_038271.1:n.446+12154G>A (TTN-AS1) | ||
| NR_038272.1:n.278G>A (TTN-AS1) | ||
| XM_011511729.1:c.99922C>T (TTN) | XP_011510031.1:p.Arg33308Ter | |
| XM_011511730.1:c.73816C>T (TTN) | XP_011510032.1:p.Arg24606Ter | |
| XM_011511731.1:c.73675C>T (TTN) | XP_011510033.1:p.Arg24559Ter | |
| XM_017004819.1:c.99718C>T (TTN) | XP_016860308.1:p.Arg33240Ter | |
| XM_017004820.1:c.95116C>T (TTN) | XP_016860309.1:p.Arg31706Ter | |
| XM_017004821.1:c.95113C>T (TTN) | XP_016860310.1:p.Arg31705Ter | |
| XM_017004822.1:c.92155C>T (TTN) | XP_016860311.1:p.Arg30719Ter | |
| XM_017004823.1:c.73771C>T (TTN) | XP_016860312.1:p.Arg24591Ter | |
| XM_024453094.1:c.95266C>T (TTN) | XP_024308862.1:p.Arg31756Ter | |
| XM_024453095.1:c.95263C>T (TTN) | XP_024308863.1:p.Arg31755Ter | |
| XM_024453096.1:c.94696C>T (TTN) | XP_024308864.1:p.Arg31566Ter | |
| XM_024453097.1:c.92038C>T (TTN) | XP_024308865.1:p.Arg30680Ter | |
| XM_024453098.1:c.91957C>T (TTN) | XP_024308866.1:p.Arg30653Ter | |
| XM_024453099.1:c.73720C>T (TTN) | XP_024308867.1:p.Arg24574Ter | |
| XM_024453100.1:c.63574C>T (TTN) | XP_024308868.1:p.Arg21192Ter |