Linked Data
ClinVar Variation Id:
518578
dbSNP Id:
rs774885355
ExAC:
2:179418075 G / T
gnomAD v2:
2-179418075-G-T
gnomAD v3:
2-178553348-G-T
gnomAD v4:
2-178553348-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553348G>T , CM000664.2:g.178553348G>T | GRCh38 |
| NC_000002.11:g.179418075G>T , CM000664.1:g.179418075G>T | GRCh37 |
| NC_000002.10:g.179126321G>T | NCBI36 |
| NG_011618.3:g.282455C>A , LRG_391:g.282455C>A | |
| NG_051363.1:g.35522G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81848C>A (TTN) | ENSP00000343764.6:p.Ala27283Asp | |
| ENST00000342175.11:c.62933C>A (TTN) | ENSP00000340554.6:p.Ala20978Asp | |
| ENST00000359218.10:c.62732C>A (TTN) | ENSP00000352154.5:p.Ala20911Asp | |
| ENST00000342175.10:c.62933C>A (TTN) | ENSP00000340554.6:p.Ala20978Asp | |
| ENST00000342992.10:c.81848C>A (TTN) | ENSP00000343764.6:p.Ala27283Asp | |
| ENST00000359218.9:c.62732C>A (TTN) | ENSP00000352154.5:p.Ala20911Asp | |
| ENST00000460472.6:c.62357C>A (TTN) | ENSP00000434586.1:p.Ala20786Asp | |
| ENST00000589042.5:c.89552C>A (TTN) MANE Select | ENSP00000467141.1:p.Ala29851Asp | |
| ENST00000591111.5:c.84629C>A (TTN) | ENSP00000465570.1:p.Ala28210Asp | |
| ENST00000615779.4:c.84629C>A (TTN) | ENSP00000483597.1:p.Ala28210Asp | |
| NM_001256850.1:c.84629C>A (TTN) | NP_001243779.1:p.Ala28210Asp | |
| NM_001267550.2:c.89552C>A (TTN) MANE Select | NP_001254479.2:p.Ala29851Asp | |
| NM_003319.4:c.62357C>A (TTN) | NP_003310.4:p.Ala20786Asp | |
| NM_133378.4:c.81848C>A (TTN) | NP_596869.4:p.Ala27283Asp | |
| NM_133432.3:c.62732C>A (TTN) | NP_597676.3:p.Ala20911Asp | |
| NM_133437.4:c.62933C>A (TTN) | NP_597681.4:p.Ala20978Asp | |
| NR_038271.1:n.447-17952G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+10987G>T (TTN-AS1) | ||
| XM_011511729.1:c.88649C>A (TTN) | XP_011510031.1:p.Ala29550Asp | |
| XM_011511730.1:c.62543C>A (TTN) | XP_011510032.1:p.Ala20848Asp | |
| XM_011511731.1:c.62402C>A (TTN) | XP_011510033.1:p.Ala20801Asp | |
| XM_017004819.1:c.88445C>A (TTN) | XP_016860308.1:p.Ala29482Asp | |
| XM_017004820.1:c.83843C>A (TTN) | XP_016860309.1:p.Ala27948Asp | |
| XM_017004821.1:c.83840C>A (TTN) | XP_016860310.1:p.Ala27947Asp | |
| XM_017004822.1:c.80882C>A (TTN) | XP_016860311.1:p.Ala26961Asp | |
| XM_017004823.1:c.62498C>A (TTN) | XP_016860312.1:p.Ala20833Asp | |
| XM_024453094.1:c.83993C>A (TTN) | XP_024308862.1:p.Ala27998Asp | |
| XM_024453095.1:c.83990C>A (TTN) | XP_024308863.1:p.Ala27997Asp | |
| XM_024453096.1:c.83423C>A (TTN) | XP_024308864.1:p.Ala27808Asp | |
| XM_024453097.1:c.80765C>A (TTN) | XP_024308865.1:p.Ala26922Asp | |
| XM_024453098.1:c.80684C>A (TTN) | XP_024308866.1:p.Ala26895Asp | |
| XM_024453099.1:c.62447C>A (TTN) | XP_024308867.1:p.Ala20816Asp | |
| XM_024453100.1:c.52301C>A (TTN) | XP_024308868.1:p.Ala17434Asp |