Linked Data
ClinVar Variation Id:
388621
dbSNP Id:
rs368297582
ExAC:
2:179446808 T / C
gnomAD v2:
2-179446808-T-C
gnomAD v3:
2-178582081-T-C
gnomAD v4:
2-178582081-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582081T>C , CM000664.2:g.178582081T>C | GRCh38 |
| NC_000002.11:g.179446808T>C , CM000664.1:g.179446808T>C | GRCh37 |
| NC_000002.10:g.179155054T>C | NCBI36 |
| NG_011618.3:g.253722A>G , LRG_391:g.253722A>G | |
| NG_051363.1:g.64255T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58584A>G (TTN) | ENSP00000343764.6:p.Glu19528= | |
| ENST00000342175.11:c.39669A>G (TTN) | ENSP00000340554.6:p.Glu13223= | |
| ENST00000359218.10:c.39468A>G (TTN) | ENSP00000352154.5:p.Glu13156= | |
| ENST00000342175.10:c.39669A>G (TTN) | ENSP00000340554.6:p.Glu13223= | |
| ENST00000342992.10:c.58584A>G (TTN) | ENSP00000343764.6:p.Glu19528= | |
| ENST00000359218.9:c.39468A>G (TTN) | ENSP00000352154.5:p.Glu13156= | |
| ENST00000460472.6:c.39093A>G (TTN) | ENSP00000434586.1:p.Glu13031= | |
| ENST00000589042.5:c.66288A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu22096= | |
| ENST00000591111.5:c.61365A>G (TTN) | ENSP00000465570.1:p.Glu20455= | |
| ENST00000615779.4:c.61365A>G (TTN) | ENSP00000483597.1:p.Glu20455= | |
| NM_001256850.1:c.61365A>G (TTN) | NP_001243779.1:p.Glu20455= | |
| NM_001267550.2:c.66288A>G (TTN) MANE Select | NP_001254479.2:p.Glu22096= | |
| NM_003319.4:c.39093A>G (TTN) | NP_003310.4:p.Glu13031= | |
| NM_133378.4:c.58584A>G (TTN) | NP_596869.4:p.Glu19528= | |
| NM_133432.3:c.39468A>G (TTN) | NP_597676.3:p.Glu13156= | |
| NM_133437.4:c.39669A>G (TTN) | NP_597681.4:p.Glu13223= | |
| NR_038271.1:n.596+10632T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-491T>C (TTN-AS1) | ||
| XM_011511729.1:c.65385A>G (TTN) | XP_011510031.1:p.Glu21795= | |
| XM_011511730.1:c.39279A>G (TTN) | XP_011510032.1:p.Glu13093= | |
| XM_011511731.1:c.39138A>G (TTN) | XP_011510033.1:p.Glu13046= | |
| XM_017004819.1:c.65181A>G (TTN) | XP_016860308.1:p.Glu21727= | |
| XM_017004820.1:c.60579A>G (TTN) | XP_016860309.1:p.Glu20193= | |
| XM_017004821.1:c.60576A>G (TTN) | XP_016860310.1:p.Glu20192= | |
| XM_017004822.1:c.57618A>G (TTN) | XP_016860311.1:p.Glu19206= | |
| XM_017004823.1:c.39234A>G (TTN) | XP_016860312.1:p.Glu13078= | |
| XM_024453094.1:c.60729A>G (TTN) | XP_024308862.1:p.Glu20243= | |
| XM_024453095.1:c.60726A>G (TTN) | XP_024308863.1:p.Glu20242= | |
| XM_024453096.1:c.60159A>G (TTN) | XP_024308864.1:p.Glu20053= | |
| XM_024453097.1:c.57501A>G (TTN) | XP_024308865.1:p.Glu19167= | |
| XM_024453098.1:c.57420A>G (TTN) | XP_024308866.1:p.Glu19140= | |
| XM_024453099.1:c.39183A>G (TTN) | XP_024308867.1:p.Glu13061= | |
| XM_024453100.1:c.29037A>G (TTN) | XP_024308868.1:p.Glu9679= |