Linked Data
ClinVar Variation Id:
289524
dbSNP Id:
rs555577161
ExAC:
2:179457505 G / A
gnomAD v2:
2-179457505-G-A
gnomAD v3:
2-178592778-G-A
gnomAD v4:
2-178592778-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592778G>A , CM000664.2:g.178592778G>A | GRCh38 |
| NC_000002.11:g.179457505G>A , CM000664.1:g.179457505G>A | GRCh37 |
| NC_000002.10:g.179165751G>A | NCBI36 |
| NG_011618.3:g.243025C>T , LRG_391:g.243025C>T | |
| NG_051363.1:g.74952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51637C>T (TTN) | ENSP00000343764.6:p.Leu17213Phe | |
| ENST00000342175.11:c.32722C>T (TTN) | ENSP00000340554.6:p.Leu10908Phe | |
| ENST00000359218.10:c.32521C>T (TTN) | ENSP00000352154.5:p.Leu10841Phe | |
| ENST00000342175.10:c.32722C>T (TTN) | ENSP00000340554.6:p.Leu10908Phe | |
| ENST00000342992.10:c.51637C>T (TTN) | ENSP00000343764.6:p.Leu17213Phe | |
| ENST00000359218.9:c.32521C>T (TTN) | ENSP00000352154.5:p.Leu10841Phe | |
| ENST00000460472.6:c.32146C>T (TTN) | ENSP00000434586.1:p.Leu10716Phe | |
| ENST00000589042.5:c.59341C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu19781Phe | |
| ENST00000591111.5:c.54418C>T (TTN) | ENSP00000465570.1:p.Leu18140Phe | |
| ENST00000615779.4:c.54418C>T (TTN) | ENSP00000483597.1:p.Leu18140Phe | |
| NM_001256850.1:c.54418C>T (TTN) | NP_001243779.1:p.Leu18140Phe | |
| NM_001267550.2:c.59341C>T (TTN) MANE Select | NP_001254479.2:p.Leu19781Phe | |
| NM_003319.4:c.32146C>T (TTN) | NP_003310.4:p.Leu10716Phe | |
| NM_133378.4:c.51637C>T (TTN) | NP_596869.4:p.Leu17213Phe | |
| NM_133432.3:c.32521C>T (TTN) | NP_597676.3:p.Leu10841Phe | |
| NM_133437.4:c.32722C>T (TTN) | NP_597681.4:p.Leu10908Phe | |
| NR_038271.1:n.597-4818G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+1464G>A (TTN-AS1) | ||
| XM_011511729.1:c.58438C>T (TTN) | XP_011510031.1:p.Leu19480Phe | |
| XM_011511730.1:c.32332C>T (TTN) | XP_011510032.1:p.Leu10778Phe | |
| XM_011511731.1:c.32191C>T (TTN) | XP_011510033.1:p.Leu10731Phe | |
| XM_017004819.1:c.58234C>T (TTN) | XP_016860308.1:p.Leu19412Phe | |
| XM_017004820.1:c.53632C>T (TTN) | XP_016860309.1:p.Leu17878Phe | |
| XM_017004821.1:c.53629C>T (TTN) | XP_016860310.1:p.Leu17877Phe | |
| XM_017004822.1:c.50671C>T (TTN) | XP_016860311.1:p.Leu16891Phe | |
| XM_017004823.1:c.32287C>T (TTN) | XP_016860312.1:p.Leu10763Phe | |
| XM_024453094.1:c.53782C>T (TTN) | XP_024308862.1:p.Leu17928Phe | |
| XM_024453095.1:c.53779C>T (TTN) | XP_024308863.1:p.Leu17927Phe | |
| XM_024453096.1:c.53212C>T (TTN) | XP_024308864.1:p.Leu17738Phe | |
| XM_024453097.1:c.50554C>T (TTN) | XP_024308865.1:p.Leu16852Phe | |
| XM_024453098.1:c.50473C>T (TTN) | XP_024308866.1:p.Leu16825Phe | |
| XM_024453099.1:c.32236C>T (TTN) | XP_024308867.1:p.Leu10746Phe | |
| XM_024453100.1:c.22090C>T (TTN) | XP_024308868.1:p.Leu7364Phe |