Linked Data
ClinVar Variation Id:
202316
dbSNP Id:
rs375173874
ExAC:
2:179454135 G / T
gnomAD v2:
2-179454135-G-T
gnomAD v3:
2-178589408-G-T
gnomAD v4:
2-178589408-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589408G>T , CM000664.2:g.178589408G>T | GRCh38 |
| NC_000002.11:g.179454135G>T , CM000664.1:g.179454135G>T | GRCh37 |
| NC_000002.10:g.179162381G>T | NCBI36 |
| NG_011618.3:g.246395C>A , LRG_391:g.246395C>A | |
| NG_051363.1:g.71582G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54613C>A (TTN) | ENSP00000343764.6:p.Leu18205Met | |
| ENST00000342175.11:c.35698C>A (TTN) | ENSP00000340554.6:p.Leu11900Met | |
| ENST00000359218.10:c.35497C>A (TTN) | ENSP00000352154.5:p.Leu11833Met | |
| ENST00000342175.10:c.35698C>A (TTN) | ENSP00000340554.6:p.Leu11900Met | |
| ENST00000342992.10:c.54613C>A (TTN) | ENSP00000343764.6:p.Leu18205Met | |
| ENST00000359218.9:c.35497C>A (TTN) | ENSP00000352154.5:p.Leu11833Met | |
| ENST00000460472.6:c.35122C>A (TTN) | ENSP00000434586.1:p.Leu11708Met | |
| ENST00000589042.5:c.62317C>A (TTN) MANE Select | ENSP00000467141.1:p.Leu20773Met | |
| ENST00000591111.5:c.57394C>A (TTN) | ENSP00000465570.1:p.Leu19132Met | |
| ENST00000615779.4:c.57394C>A (TTN) | ENSP00000483597.1:p.Leu19132Met | |
| NM_001256850.1:c.57394C>A (TTN) | NP_001243779.1:p.Leu19132Met | |
| NM_001267550.2:c.62317C>A (TTN) MANE Select | NP_001254479.2:p.Leu20773Met | |
| NM_003319.4:c.35122C>A (TTN) | NP_003310.4:p.Leu11708Met | |
| NM_133378.4:c.54613C>A (TTN) | NP_596869.4:p.Leu18205Met | |
| NM_133432.3:c.35497C>A (TTN) | NP_597676.3:p.Leu11833Met | |
| NM_133437.4:c.35698C>A (TTN) | NP_597681.4:p.Leu11900Met | |
| NR_038271.1:n.597-8188G>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1731G>T (TTN-AS1) | ||
| XM_011511729.1:c.61414C>A (TTN) | XP_011510031.1:p.Leu20472Met | |
| XM_011511730.1:c.35308C>A (TTN) | XP_011510032.1:p.Leu11770Met | |
| XM_011511731.1:c.35167C>A (TTN) | XP_011510033.1:p.Leu11723Met | |
| XM_017004819.1:c.61210C>A (TTN) | XP_016860308.1:p.Leu20404Met | |
| XM_017004820.1:c.56608C>A (TTN) | XP_016860309.1:p.Leu18870Met | |
| XM_017004821.1:c.56605C>A (TTN) | XP_016860310.1:p.Leu18869Met | |
| XM_017004822.1:c.53647C>A (TTN) | XP_016860311.1:p.Leu17883Met | |
| XM_017004823.1:c.35263C>A (TTN) | XP_016860312.1:p.Leu11755Met | |
| XM_024453094.1:c.56758C>A (TTN) | XP_024308862.1:p.Leu18920Met | |
| XM_024453095.1:c.56755C>A (TTN) | XP_024308863.1:p.Leu18919Met | |
| XM_024453096.1:c.56188C>A (TTN) | XP_024308864.1:p.Leu18730Met | |
| XM_024453097.1:c.53530C>A (TTN) | XP_024308865.1:p.Leu17844Met | |
| XM_024453098.1:c.53449C>A (TTN) | XP_024308866.1:p.Leu17817Met | |
| XM_024453099.1:c.35212C>A (TTN) | XP_024308867.1:p.Leu11738Met | |
| XM_024453100.1:c.25066C>A (TTN) | XP_024308868.1:p.Leu8356Met |