Linked Data
ClinVar Variation Id:
288075
dbSNP Id:
rs56052239
ExAC:
2:179440875 C / T
gnomAD v2:
2-179440875-C-T
gnomAD v3:
2-178576148-C-T
gnomAD v4:
2-178576148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576148C>T , CM000664.2:g.178576148C>T | GRCh38 |
| NC_000002.11:g.179440875C>T , CM000664.1:g.179440875C>T | GRCh37 |
| NC_000002.10:g.179149121C>T | NCBI36 |
| NG_011618.3:g.259655G>A , LRG_391:g.259655G>A | |
| NG_051363.1:g.58322C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62280G>A (TTN) | ENSP00000343764.6:p.Ala20760= | |
| ENST00000342175.11:c.43365G>A (TTN) | ENSP00000340554.6:p.Ala14455= | |
| ENST00000359218.10:c.43164G>A (TTN) | ENSP00000352154.5:p.Ala14388= | |
| ENST00000342175.10:c.43365G>A (TTN) | ENSP00000340554.6:p.Ala14455= | |
| ENST00000342992.10:c.62280G>A (TTN) | ENSP00000343764.6:p.Ala20760= | |
| ENST00000359218.9:c.43164G>A (TTN) | ENSP00000352154.5:p.Ala14388= | |
| ENST00000460472.6:c.42789G>A (TTN) | ENSP00000434586.1:p.Ala14263= | |
| ENST00000589042.5:c.69984G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala23328= | |
| ENST00000591111.5:c.65061G>A (TTN) | ENSP00000465570.1:p.Ala21687= | |
| ENST00000615779.4:c.65061G>A (TTN) | ENSP00000483597.1:p.Ala21687= | |
| NM_001256850.1:c.65061G>A (TTN) | NP_001243779.1:p.Ala21687= | |
| NM_001267550.2:c.69984G>A (TTN) MANE Select | NP_001254479.2:p.Ala23328= | |
| NM_003319.4:c.42789G>A (TTN) | NP_003310.4:p.Ala14263= | |
| NM_133378.4:c.62280G>A (TTN) | NP_596869.4:p.Ala20760= | |
| NM_133432.3:c.43164G>A (TTN) | NP_597676.3:p.Ala14388= | |
| NM_133437.4:c.43365G>A (TTN) | NP_597681.4:p.Ala14455= | |
| NR_038271.1:n.596+4699C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-6424C>T (TTN-AS1) | ||
| XM_011511729.1:c.69081G>A (TTN) | XP_011510031.1:p.Ala23027= | |
| XM_011511730.1:c.42975G>A (TTN) | XP_011510032.1:p.Ala14325= | |
| XM_011511731.1:c.42834G>A (TTN) | XP_011510033.1:p.Ala14278= | |
| XM_017004819.1:c.68877G>A (TTN) | XP_016860308.1:p.Ala22959= | |
| XM_017004820.1:c.64275G>A (TTN) | XP_016860309.1:p.Ala21425= | |
| XM_017004821.1:c.64272G>A (TTN) | XP_016860310.1:p.Ala21424= | |
| XM_017004822.1:c.61314G>A (TTN) | XP_016860311.1:p.Ala20438= | |
| XM_017004823.1:c.42930G>A (TTN) | XP_016860312.1:p.Ala14310= | |
| XM_024453094.1:c.64425G>A (TTN) | XP_024308862.1:p.Ala21475= | |
| XM_024453095.1:c.64422G>A (TTN) | XP_024308863.1:p.Ala21474= | |
| XM_024453096.1:c.63855G>A (TTN) | XP_024308864.1:p.Ala21285= | |
| XM_024453097.1:c.61197G>A (TTN) | XP_024308865.1:p.Ala20399= | |
| XM_024453098.1:c.61116G>A (TTN) | XP_024308866.1:p.Ala20372= | |
| XM_024453099.1:c.42879G>A (TTN) | XP_024308867.1:p.Ala14293= | |
| XM_024453100.1:c.32733G>A (TTN) | XP_024308868.1:p.Ala10911= |