Linked Data
ClinVar Variation Id:
281667
dbSNP Id:
rs376930907
ExAC:
2:179460304 C / T
gnomAD v2:
2-179460304-C-T
gnomAD v4:
2-178595577-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178595577C>T , CM000664.2:g.178595577C>T | GRCh38 |
| NC_000002.11:g.179460304C>T , CM000664.1:g.179460304C>T | GRCh37 |
| NC_000002.10:g.179168550C>T | NCBI36 |
| NG_011618.3:g.240226G>A , LRG_391:g.240226G>A | |
| NG_051363.1:g.77751C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50073G>A (TTN) | ENSP00000343764.6:p.Ala16691= | |
| ENST00000342175.11:c.31158G>A (TTN) | ENSP00000340554.6:p.Ala10386= | |
| ENST00000359218.10:c.30957G>A (TTN) | ENSP00000352154.5:p.Ala10319= | |
| ENST00000342175.10:c.31158G>A (TTN) | ENSP00000340554.6:p.Ala10386= | |
| ENST00000342992.10:c.50073G>A (TTN) | ENSP00000343764.6:p.Ala16691= | |
| ENST00000359218.9:c.30957G>A (TTN) | ENSP00000352154.5:p.Ala10319= | |
| ENST00000460472.6:c.30582G>A (TTN) | ENSP00000434586.1:p.Ala10194= | |
| ENST00000589042.5:c.57777G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala19259= | |
| ENST00000591111.5:c.52854G>A (TTN) | ENSP00000465570.1:p.Ala17618= | |
| ENST00000615779.4:c.52854G>A (TTN) | ENSP00000483597.1:p.Ala17618= | |
| NM_001256850.1:c.52854G>A (TTN) | NP_001243779.1:p.Ala17618= | |
| NM_001267550.2:c.57777G>A (TTN) MANE Select | NP_001254479.2:p.Ala19259= | |
| NM_003319.4:c.30582G>A (TTN) | NP_003310.4:p.Ala10194= | |
| NM_133378.4:c.50073G>A (TTN) | NP_596869.4:p.Ala16691= | |
| NM_133432.3:c.30957G>A (TTN) | NP_597676.3:p.Ala10319= | |
| NM_133437.4:c.31158G>A (TTN) | NP_597681.4:p.Ala10386= | |
| NR_038271.1:n.597-2019C>T (TTN-AS1) | ||
| NR_038272.1:n.3365-2019C>T (TTN-AS1) | ||
| XM_011511729.1:c.56874G>A (TTN) | XP_011510031.1:p.Ala18958= | |
| XM_011511730.1:c.30768G>A (TTN) | XP_011510032.1:p.Ala10256= | |
| XM_011511731.1:c.30627G>A (TTN) | XP_011510033.1:p.Ala10209= | |
| XM_017004819.1:c.56670G>A (TTN) | XP_016860308.1:p.Ala18890= | |
| XM_017004820.1:c.52068G>A (TTN) | XP_016860309.1:p.Ala17356= | |
| XM_017004821.1:c.52065G>A (TTN) | XP_016860310.1:p.Ala17355= | |
| XM_017004822.1:c.49107G>A (TTN) | XP_016860311.1:p.Ala16369= | |
| XM_017004823.1:c.30723G>A (TTN) | XP_016860312.1:p.Ala10241= | |
| XM_024453094.1:c.52218G>A (TTN) | XP_024308862.1:p.Ala17406= | |
| XM_024453095.1:c.52215G>A (TTN) | XP_024308863.1:p.Ala17405= | |
| XM_024453096.1:c.51648G>A (TTN) | XP_024308864.1:p.Ala17216= | |
| XM_024453097.1:c.48990G>A (TTN) | XP_024308865.1:p.Ala16330= | |
| XM_024453098.1:c.48909G>A (TTN) | XP_024308866.1:p.Ala16303= | |
| XM_024453099.1:c.30672G>A (TTN) | XP_024308867.1:p.Ala10224= | |
| XM_024453100.1:c.20526G>A (TTN) | XP_024308868.1:p.Ala6842= |