Linked Data
ClinVar Variation Id:
332791
ClinVar RCV Id:
RCV000300571
RCV000322831
RCV000353062
RCV000360952
RCV000393233
RCV000643052
RCV000611133
RCV000768938
RCV001311959
RCV002328853
dbSNP Id:
rs375183437
ExAC:
2:179439801 C / T
gnomAD v2:
2-179439801-C-T
gnomAD v3:
2-178575074-C-T
gnomAD v4:
2-178575074-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575074C>T , CM000664.2:g.178575074C>T | GRCh38 |
| NC_000002.11:g.179439801C>T , CM000664.1:g.179439801C>T | GRCh37 |
| NC_000002.10:g.179148047C>T | NCBI36 |
| NG_011618.3:g.260729G>A , LRG_391:g.260729G>A | |
| NG_051363.1:g.57248C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63354G>A (TTN) | ENSP00000343764.6:p.Ala21118= | |
| ENST00000342175.11:c.44439G>A (TTN) | ENSP00000340554.6:p.Ala14813= | |
| ENST00000359218.10:c.44238G>A (TTN) | ENSP00000352154.5:p.Ala14746= | |
| ENST00000342175.10:c.44439G>A (TTN) | ENSP00000340554.6:p.Ala14813= | |
| ENST00000342992.10:c.63354G>A (TTN) | ENSP00000343764.6:p.Ala21118= | |
| ENST00000359218.9:c.44238G>A (TTN) | ENSP00000352154.5:p.Ala14746= | |
| ENST00000460472.6:c.43863G>A (TTN) | ENSP00000434586.1:p.Ala14621= | |
| ENST00000589042.5:c.71058G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala23686= | |
| ENST00000591111.5:c.66135G>A (TTN) | ENSP00000465570.1:p.Ala22045= | |
| ENST00000615779.4:c.66135G>A (TTN) | ENSP00000483597.1:p.Ala22045= | |
| NM_001256850.1:c.66135G>A (TTN) | NP_001243779.1:p.Ala22045= | |
| NM_001267550.2:c.71058G>A (TTN) MANE Select | NP_001254479.2:p.Ala23686= | |
| NM_003319.4:c.43863G>A (TTN) | NP_003310.4:p.Ala14621= | |
| NM_133378.4:c.63354G>A (TTN) | NP_596869.4:p.Ala21118= | |
| NM_133432.3:c.44238G>A (TTN) | NP_597676.3:p.Ala14746= | |
| NM_133437.4:c.44439G>A (TTN) | NP_597681.4:p.Ala14813= | |
| NR_038271.1:n.596+3625C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-7498C>T (TTN-AS1) | ||
| XM_011511729.1:c.70155G>A (TTN) | XP_011510031.1:p.Ala23385= | |
| XM_011511730.1:c.44049G>A (TTN) | XP_011510032.1:p.Ala14683= | |
| XM_011511731.1:c.43908G>A (TTN) | XP_011510033.1:p.Ala14636= | |
| XM_017004819.1:c.69951G>A (TTN) | XP_016860308.1:p.Ala23317= | |
| XM_017004820.1:c.65349G>A (TTN) | XP_016860309.1:p.Ala21783= | |
| XM_017004821.1:c.65346G>A (TTN) | XP_016860310.1:p.Ala21782= | |
| XM_017004822.1:c.62388G>A (TTN) | XP_016860311.1:p.Ala20796= | |
| XM_017004823.1:c.44004G>A (TTN) | XP_016860312.1:p.Ala14668= | |
| XM_024453094.1:c.65499G>A (TTN) | XP_024308862.1:p.Ala21833= | |
| XM_024453095.1:c.65496G>A (TTN) | XP_024308863.1:p.Ala21832= | |
| XM_024453096.1:c.64929G>A (TTN) | XP_024308864.1:p.Ala21643= | |
| XM_024453097.1:c.62271G>A (TTN) | XP_024308865.1:p.Ala20757= | |
| XM_024453098.1:c.62190G>A (TTN) | XP_024308866.1:p.Ala20730= | |
| XM_024453099.1:c.43953G>A (TTN) | XP_024308867.1:p.Ala14651= | |
| XM_024453100.1:c.33807G>A (TTN) | XP_024308868.1:p.Ala11269= |