Linked Data
ClinVar Variation Id:
229454
dbSNP Id:
rs773027240
ExAC:
2:179473539 T / G
gnomAD v2:
2-179473539-T-G
gnomAD v3:
2-178608812-T-G
gnomAD v4:
2-178608812-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608812T>G , CM000664.2:g.178608812T>G | GRCh38 |
| NC_000002.11:g.179473539T>G , CM000664.1:g.179473539T>G | GRCh37 |
| NC_000002.10:g.179181784T>G | NCBI36 |
| NG_011618.3:g.226991A>C , LRG_391:g.226991A>C | |
| NG_051363.1:g.90986T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44495A>C (TTN) | ENSP00000343764.6:p.Glu14832Ala | |
| ENST00000342175.11:c.25580A>C (TTN) | ENSP00000340554.6:p.Glu8527Ala | |
| ENST00000359218.10:c.25379A>C (TTN) | ENSP00000352154.5:p.Glu8460Ala | |
| ENST00000342175.10:c.25580A>C (TTN) | ENSP00000340554.6:p.Glu8527Ala | |
| ENST00000342992.10:c.44495A>C (TTN) | ENSP00000343764.6:p.Glu14832Ala | |
| ENST00000359218.9:c.25379A>C (TTN) | ENSP00000352154.5:p.Glu8460Ala | |
| ENST00000460472.6:c.25004A>C (TTN) | ENSP00000434586.1:p.Glu8335Ala | |
| ENST00000589042.5:c.52199A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu17400Ala | |
| ENST00000591111.5:c.47276A>C (TTN) | ENSP00000465570.1:p.Glu15759Ala | |
| ENST00000615779.4:c.47276A>C (TTN) | ENSP00000483597.1:p.Glu15759Ala | |
| NM_001256850.1:c.47276A>C (TTN) | NP_001243779.1:p.Glu15759Ala | |
| NM_001267550.2:c.52199A>C (TTN) MANE Select | NP_001254479.2:p.Glu17400Ala | |
| NM_003319.4:c.25004A>C (TTN) | NP_003310.4:p.Glu8335Ala | |
| NM_133378.4:c.44495A>C (TTN) | NP_596869.4:p.Glu14832Ala | |
| NM_133432.3:c.25379A>C (TTN) | NP_597676.3:p.Glu8460Ala | |
| NM_133437.4:c.25580A>C (TTN) | NP_597681.4:p.Glu8527Ala | |
| NR_038271.1:n.782+546T>G (TTN-AS1) | ||
| XM_011511729.1:c.51296A>C (TTN) | XP_011510031.1:p.Glu17099Ala | |
| XM_011511730.1:c.25190A>C (TTN) | XP_011510032.1:p.Glu8397Ala | |
| XM_011511731.1:c.25049A>C (TTN) | XP_011510033.1:p.Glu8350Ala | |
| XM_017004819.1:c.51092A>C (TTN) | XP_016860308.1:p.Glu17031Ala | |
| XM_017004820.1:c.46490A>C (TTN) | XP_016860309.1:p.Glu15497Ala | |
| XM_017004821.1:c.46487A>C (TTN) | XP_016860310.1:p.Glu15496Ala | |
| XM_017004822.1:c.43529A>C (TTN) | XP_016860311.1:p.Glu14510Ala | |
| XM_017004823.1:c.25145A>C (TTN) | XP_016860312.1:p.Glu8382Ala | |
| XM_024453094.1:c.46640A>C (TTN) | XP_024308862.1:p.Glu15547Ala | |
| XM_024453095.1:c.46637A>C (TTN) | XP_024308863.1:p.Glu15546Ala | |
| XM_024453096.1:c.46070A>C (TTN) | XP_024308864.1:p.Glu15357Ala | |
| XM_024453097.1:c.43412A>C (TTN) | XP_024308865.1:p.Glu14471Ala | |
| XM_024453098.1:c.43331A>C (TTN) | XP_024308866.1:p.Glu14444Ala | |
| XM_024453099.1:c.25094A>C (TTN) | XP_024308867.1:p.Glu8365Ala | |
| XM_024453100.1:c.14948A>C (TTN) | XP_024308868.1:p.Glu4983Ala |