Linked Data
ClinVar Variation Id:
202766
ClinVar RCV Id:
RCV000276032
RCV000362515
RCV000322078
RCV000376658
RCV000307778
RCV001293203
RCV002460055
RCV001704912
dbSNP Id:
rs568886353
ExAC:
2:179453457 A / C
gnomAD v2:
2-179453457-A-C
gnomAD v3:
2-178588730-A-C
gnomAD v4:
2-178588730-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588730A>C , CM000664.2:g.178588730A>C | GRCh38 |
| NC_000002.11:g.179453457A>C , CM000664.1:g.179453457A>C | GRCh37 |
| NC_000002.10:g.179161703A>C | NCBI36 |
| NG_011618.3:g.247073T>G , LRG_391:g.247073T>G | |
| NG_051363.1:g.70904A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55291T>G (TTN) | ENSP00000343764.6:p.Phe18431Val | |
| ENST00000342175.11:c.36376T>G (TTN) | ENSP00000340554.6:p.Phe12126Val | |
| ENST00000359218.10:c.36175T>G (TTN) | ENSP00000352154.5:p.Phe12059Val | |
| ENST00000342175.10:c.36376T>G (TTN) | ENSP00000340554.6:p.Phe12126Val | |
| ENST00000342992.10:c.55291T>G (TTN) | ENSP00000343764.6:p.Phe18431Val | |
| ENST00000359218.9:c.36175T>G (TTN) | ENSP00000352154.5:p.Phe12059Val | |
| ENST00000460472.6:c.35800T>G (TTN) | ENSP00000434586.1:p.Phe11934Val | |
| ENST00000589042.5:c.62995T>G (TTN) MANE Select | ENSP00000467141.1:p.Phe20999Val | |
| ENST00000591111.5:c.58072T>G (TTN) | ENSP00000465570.1:p.Phe19358Val | |
| ENST00000615779.4:c.58072T>G (TTN) | ENSP00000483597.1:p.Phe19358Val | |
| NM_001256850.1:c.58072T>G (TTN) | NP_001243779.1:p.Phe19358Val | |
| NM_001267550.2:c.62995T>G (TTN) MANE Select | NP_001254479.2:p.Phe20999Val | |
| NM_003319.4:c.35800T>G (TTN) | NP_003310.4:p.Phe11934Val | |
| NM_133378.4:c.55291T>G (TTN) | NP_596869.4:p.Phe18431Val | |
| NM_133432.3:c.36175T>G (TTN) | NP_597676.3:p.Phe12059Val | |
| NM_133437.4:c.36376T>G (TTN) | NP_597681.4:p.Phe12126Val | |
| NR_038271.1:n.597-8866A>C (TTN-AS1) | ||
| NR_038272.1:n.3189-2409A>C (TTN-AS1) | ||
| XM_011511729.1:c.62092T>G (TTN) | XP_011510031.1:p.Phe20698Val | |
| XM_011511730.1:c.35986T>G (TTN) | XP_011510032.1:p.Phe11996Val | |
| XM_011511731.1:c.35845T>G (TTN) | XP_011510033.1:p.Phe11949Val | |
| XM_017004819.1:c.61888T>G (TTN) | XP_016860308.1:p.Phe20630Val | |
| XM_017004820.1:c.57286T>G (TTN) | XP_016860309.1:p.Phe19096Val | |
| XM_017004821.1:c.57283T>G (TTN) | XP_016860310.1:p.Phe19095Val | |
| XM_017004822.1:c.54325T>G (TTN) | XP_016860311.1:p.Phe18109Val | |
| XM_017004823.1:c.35941T>G (TTN) | XP_016860312.1:p.Phe11981Val | |
| XM_024453094.1:c.57436T>G (TTN) | XP_024308862.1:p.Phe19146Val | |
| XM_024453095.1:c.57433T>G (TTN) | XP_024308863.1:p.Phe19145Val | |
| XM_024453096.1:c.56866T>G (TTN) | XP_024308864.1:p.Phe18956Val | |
| XM_024453097.1:c.54208T>G (TTN) | XP_024308865.1:p.Phe18070Val | |
| XM_024453098.1:c.54127T>G (TTN) | XP_024308866.1:p.Phe18043Val | |
| XM_024453099.1:c.35890T>G (TTN) | XP_024308867.1:p.Phe11964Val | |
| XM_024453100.1:c.25744T>G (TTN) | XP_024308868.1:p.Phe8582Val |