Linked Data
ClinVar Variation Id:
404848
dbSNP Id:
rs200022152
ExAC:
2:179416834 G / A
gnomAD v2:
2-179416834-G-A
gnomAD v3:
2-178552107-G-A
gnomAD v4:
2-178552107-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552107G>A , CM000664.2:g.178552107G>A | GRCh38 |
| NC_000002.11:g.179416834G>A , CM000664.1:g.179416834G>A | GRCh37 |
| NC_000002.10:g.179125080G>A | NCBI36 |
| NG_011618.3:g.283696C>T , LRG_391:g.283696C>T | |
| NG_051363.1:g.34281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83089C>T (TTN) | ENSP00000343764.6:p.Arg27697Trp | |
| ENST00000342175.11:c.64174C>T (TTN) | ENSP00000340554.6:p.Arg21392Trp | |
| ENST00000359218.10:c.63973C>T (TTN) | ENSP00000352154.5:p.Arg21325Trp | |
| ENST00000342175.10:c.64174C>T (TTN) | ENSP00000340554.6:p.Arg21392Trp | |
| ENST00000342992.10:c.83089C>T (TTN) | ENSP00000343764.6:p.Arg27697Trp | |
| ENST00000359218.9:c.63973C>T (TTN) | ENSP00000352154.5:p.Arg21325Trp | |
| ENST00000460472.6:c.63598C>T (TTN) | ENSP00000434586.1:p.Arg21200Trp | |
| ENST00000589042.5:c.90793C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg30265Trp | |
| ENST00000591111.5:c.85870C>T (TTN) | ENSP00000465570.1:p.Arg28624Trp | |
| ENST00000615779.4:c.85870C>T (TTN) | ENSP00000483597.1:p.Arg28624Trp | |
| NM_001256850.1:c.85870C>T (TTN) | NP_001243779.1:p.Arg28624Trp | |
| NM_001267550.2:c.90793C>T (TTN) MANE Select | NP_001254479.2:p.Arg30265Trp | |
| NM_003319.4:c.63598C>T (TTN) | NP_003310.4:p.Arg21200Trp | |
| NM_133378.4:c.83089C>T (TTN) | NP_596869.4:p.Arg27697Trp | |
| NM_133432.3:c.63973C>T (TTN) | NP_597676.3:p.Arg21325Trp | |
| NM_133437.4:c.64174C>T (TTN) | NP_597681.4:p.Arg21392Trp | |
| NR_038271.1:n.447-19193G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+9746G>A (TTN-AS1) | ||
| XM_011511729.1:c.89890C>T (TTN) | XP_011510031.1:p.Arg29964Trp | |
| XM_011511730.1:c.63784C>T (TTN) | XP_011510032.1:p.Arg21262Trp | |
| XM_011511731.1:c.63643C>T (TTN) | XP_011510033.1:p.Arg21215Trp | |
| XM_017004819.1:c.89686C>T (TTN) | XP_016860308.1:p.Arg29896Trp | |
| XM_017004820.1:c.85084C>T (TTN) | XP_016860309.1:p.Arg28362Trp | |
| XM_017004821.1:c.85081C>T (TTN) | XP_016860310.1:p.Arg28361Trp | |
| XM_017004822.1:c.82123C>T (TTN) | XP_016860311.1:p.Arg27375Trp | |
| XM_017004823.1:c.63739C>T (TTN) | XP_016860312.1:p.Arg21247Trp | |
| XM_024453094.1:c.85234C>T (TTN) | XP_024308862.1:p.Arg28412Trp | |
| XM_024453095.1:c.85231C>T (TTN) | XP_024308863.1:p.Arg28411Trp | |
| XM_024453096.1:c.84664C>T (TTN) | XP_024308864.1:p.Arg28222Trp | |
| XM_024453097.1:c.82006C>T (TTN) | XP_024308865.1:p.Arg27336Trp | |
| XM_024453098.1:c.81925C>T (TTN) | XP_024308866.1:p.Arg27309Trp | |
| XM_024453099.1:c.63688C>T (TTN) | XP_024308867.1:p.Arg21230Trp | |
| XM_024453100.1:c.53542C>T (TTN) | XP_024308868.1:p.Arg17848Trp |