Linked Data
ClinVar Variation Id:
499307
dbSNP Id:
rs747181293
ExAC:
2:179417867 T / G
gnomAD v2:
2-179417867-T-G
gnomAD v3:
2-178553140-T-G
gnomAD v4:
2-178553140-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553140T>G , CM000664.2:g.178553140T>G | GRCh38 |
| NC_000002.11:g.179417867T>G , CM000664.1:g.179417867T>G | GRCh37 |
| NC_000002.10:g.179126113T>G | NCBI36 |
| NG_011618.3:g.282663A>C , LRG_391:g.282663A>C | |
| NG_051363.1:g.35314T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82056A>C (TTN) | ENSP00000343764.6:p.Glu27352Asp | |
| ENST00000342175.11:c.63141A>C (TTN) | ENSP00000340554.6:p.Glu21047Asp | |
| ENST00000359218.10:c.62940A>C (TTN) | ENSP00000352154.5:p.Glu20980Asp | |
| ENST00000342175.10:c.63141A>C (TTN) | ENSP00000340554.6:p.Glu21047Asp | |
| ENST00000342992.10:c.82056A>C (TTN) | ENSP00000343764.6:p.Glu27352Asp | |
| ENST00000359218.9:c.62940A>C (TTN) | ENSP00000352154.5:p.Glu20980Asp | |
| ENST00000460472.6:c.62565A>C (TTN) | ENSP00000434586.1:p.Glu20855Asp | |
| ENST00000589042.5:c.89760A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu29920Asp | |
| ENST00000591111.5:c.84837A>C (TTN) | ENSP00000465570.1:p.Glu28279Asp | |
| ENST00000615779.4:c.84837A>C (TTN) | ENSP00000483597.1:p.Glu28279Asp | |
| NM_001256850.1:c.84837A>C (TTN) | NP_001243779.1:p.Glu28279Asp | |
| NM_001267550.2:c.89760A>C (TTN) MANE Select | NP_001254479.2:p.Glu29920Asp | |
| NM_003319.4:c.62565A>C (TTN) | NP_003310.4:p.Glu20855Asp | |
| NM_133378.4:c.82056A>C (TTN) | NP_596869.4:p.Glu27352Asp | |
| NM_133432.3:c.62940A>C (TTN) | NP_597676.3:p.Glu20980Asp | |
| NM_133437.4:c.63141A>C (TTN) | NP_597681.4:p.Glu21047Asp | |
| NR_038271.1:n.447-18160T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+10779T>G (TTN-AS1) | ||
| XM_011511729.1:c.88857A>C (TTN) | XP_011510031.1:p.Glu29619Asp | |
| XM_011511730.1:c.62751A>C (TTN) | XP_011510032.1:p.Glu20917Asp | |
| XM_011511731.1:c.62610A>C (TTN) | XP_011510033.1:p.Glu20870Asp | |
| XM_017004819.1:c.88653A>C (TTN) | XP_016860308.1:p.Glu29551Asp | |
| XM_017004820.1:c.84051A>C (TTN) | XP_016860309.1:p.Glu28017Asp | |
| XM_017004821.1:c.84048A>C (TTN) | XP_016860310.1:p.Glu28016Asp | |
| XM_017004822.1:c.81090A>C (TTN) | XP_016860311.1:p.Glu27030Asp | |
| XM_017004823.1:c.62706A>C (TTN) | XP_016860312.1:p.Glu20902Asp | |
| XM_024453094.1:c.84201A>C (TTN) | XP_024308862.1:p.Glu28067Asp | |
| XM_024453095.1:c.84198A>C (TTN) | XP_024308863.1:p.Glu28066Asp | |
| XM_024453096.1:c.83631A>C (TTN) | XP_024308864.1:p.Glu27877Asp | |
| XM_024453097.1:c.80973A>C (TTN) | XP_024308865.1:p.Glu26991Asp | |
| XM_024453098.1:c.80892A>C (TTN) | XP_024308866.1:p.Glu26964Asp | |
| XM_024453099.1:c.62655A>C (TTN) | XP_024308867.1:p.Glu20885Asp | |
| XM_024453100.1:c.52509A>C (TTN) | XP_024308868.1:p.Glu17503Asp |