Linked Data
ClinVar Variation Id:
467474
dbSNP Id:
rs202191466
ExAC:
2:179435999 G / A
gnomAD v2:
2-179435999-G-A
gnomAD v3:
2-178571272-G-A
gnomAD v4:
2-178571272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571272G>A , CM000664.2:g.178571272G>A | GRCh38 |
| NC_000002.11:g.179435999G>A , CM000664.1:g.179435999G>A | GRCh37 |
| NC_000002.10:g.179144245G>A | NCBI36 |
| NG_011618.3:g.264531C>T , LRG_391:g.264531C>T | |
| NG_051363.1:g.53446G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67156C>T (TTN) | ENSP00000343764.6:p.Leu22386Phe | |
| ENST00000342175.11:c.48241C>T (TTN) | ENSP00000340554.6:p.Leu16081Phe | |
| ENST00000359218.10:c.48040C>T (TTN) | ENSP00000352154.5:p.Leu16014Phe | |
| ENST00000342175.10:c.48241C>T (TTN) | ENSP00000340554.6:p.Leu16081Phe | |
| ENST00000342992.10:c.67156C>T (TTN) | ENSP00000343764.6:p.Leu22386Phe | |
| ENST00000359218.9:c.48040C>T (TTN) | ENSP00000352154.5:p.Leu16014Phe | |
| ENST00000460472.6:c.47665C>T (TTN) | ENSP00000434586.1:p.Leu15889Phe | |
| ENST00000589042.5:c.74860C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu24954Phe | |
| ENST00000591111.5:c.69937C>T (TTN) | ENSP00000465570.1:p.Leu23313Phe | |
| ENST00000615779.4:c.69937C>T (TTN) | ENSP00000483597.1:p.Leu23313Phe | |
| NM_001256850.1:c.69937C>T (TTN) | NP_001243779.1:p.Leu23313Phe | |
| NM_001267550.2:c.74860C>T (TTN) MANE Select | NP_001254479.2:p.Leu24954Phe | |
| NM_003319.4:c.47665C>T (TTN) | NP_003310.4:p.Leu15889Phe | |
| NM_133378.4:c.67156C>T (TTN) | NP_596869.4:p.Leu22386Phe | |
| NM_133432.3:c.48040C>T (TTN) | NP_597676.3:p.Leu16014Phe | |
| NM_133437.4:c.48241C>T (TTN) | NP_597681.4:p.Leu16081Phe | |
| NR_038271.1:n.447-28G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-11300G>A (TTN-AS1) | ||
| XM_011511729.1:c.73957C>T (TTN) | XP_011510031.1:p.Leu24653Phe | |
| XM_011511730.1:c.47851C>T (TTN) | XP_011510032.1:p.Leu15951Phe | |
| XM_011511731.1:c.47710C>T (TTN) | XP_011510033.1:p.Leu15904Phe | |
| XM_017004819.1:c.73753C>T (TTN) | XP_016860308.1:p.Leu24585Phe | |
| XM_017004820.1:c.69151C>T (TTN) | XP_016860309.1:p.Leu23051Phe | |
| XM_017004821.1:c.69148C>T (TTN) | XP_016860310.1:p.Leu23050Phe | |
| XM_017004822.1:c.66190C>T (TTN) | XP_016860311.1:p.Leu22064Phe | |
| XM_017004823.1:c.47806C>T (TTN) | XP_016860312.1:p.Leu15936Phe | |
| XM_024453094.1:c.69301C>T (TTN) | XP_024308862.1:p.Leu23101Phe | |
| XM_024453095.1:c.69298C>T (TTN) | XP_024308863.1:p.Leu23100Phe | |
| XM_024453096.1:c.68731C>T (TTN) | XP_024308864.1:p.Leu22911Phe | |
| XM_024453097.1:c.66073C>T (TTN) | XP_024308865.1:p.Leu22025Phe | |
| XM_024453098.1:c.65992C>T (TTN) | XP_024308866.1:p.Leu21998Phe | |
| XM_024453099.1:c.47755C>T (TTN) | XP_024308867.1:p.Leu15919Phe | |
| XM_024453100.1:c.37609C>T (TTN) | XP_024308868.1:p.Leu12537Phe |