Linked Data
ClinVar Variation Id:
404646
dbSNP Id:
rs372662393
ExAC:
2:179438693 G / A
gnomAD v2:
2-179438693-G-A
gnomAD v3:
2-178573966-G-A
gnomAD v4:
2-178573966-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573966G>A , CM000664.2:g.178573966G>A | GRCh38 |
| NC_000002.11:g.179438693G>A , CM000664.1:g.179438693G>A | GRCh37 |
| NC_000002.10:g.179146939G>A | NCBI36 |
| NG_011618.3:g.261837C>T , LRG_391:g.261837C>T | |
| NG_051363.1:g.56140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64462C>T (TTN) | ENSP00000343764.6:p.Arg21488Cys | |
| ENST00000342175.11:c.45547C>T (TTN) | ENSP00000340554.6:p.Arg15183Cys | |
| ENST00000359218.10:c.45346C>T (TTN) | ENSP00000352154.5:p.Arg15116Cys | |
| ENST00000342175.10:c.45547C>T (TTN) | ENSP00000340554.6:p.Arg15183Cys | |
| ENST00000342992.10:c.64462C>T (TTN) | ENSP00000343764.6:p.Arg21488Cys | |
| ENST00000359218.9:c.45346C>T (TTN) | ENSP00000352154.5:p.Arg15116Cys | |
| ENST00000460472.6:c.44971C>T (TTN) | ENSP00000434586.1:p.Arg14991Cys | |
| ENST00000589042.5:c.72166C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg24056Cys | |
| ENST00000591111.5:c.67243C>T (TTN) | ENSP00000465570.1:p.Arg22415Cys | |
| ENST00000615779.4:c.67243C>T (TTN) | ENSP00000483597.1:p.Arg22415Cys | |
| NM_001256850.1:c.67243C>T (TTN) | NP_001243779.1:p.Arg22415Cys | |
| NM_001267550.2:c.72166C>T (TTN) MANE Select | NP_001254479.2:p.Arg24056Cys | |
| NM_003319.4:c.44971C>T (TTN) | NP_003310.4:p.Arg14991Cys | |
| NM_133378.4:c.64462C>T (TTN) | NP_596869.4:p.Arg21488Cys | |
| NM_133432.3:c.45346C>T (TTN) | NP_597676.3:p.Arg15116Cys | |
| NM_133437.4:c.45547C>T (TTN) | NP_597681.4:p.Arg15183Cys | |
| NR_038271.1:n.596+2517G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-8606G>A (TTN-AS1) | ||
| XM_011511729.1:c.71263C>T (TTN) | XP_011510031.1:p.Arg23755Cys | |
| XM_011511730.1:c.45157C>T (TTN) | XP_011510032.1:p.Arg15053Cys | |
| XM_011511731.1:c.45016C>T (TTN) | XP_011510033.1:p.Arg15006Cys | |
| XM_017004819.1:c.71059C>T (TTN) | XP_016860308.1:p.Arg23687Cys | |
| XM_017004820.1:c.66457C>T (TTN) | XP_016860309.1:p.Arg22153Cys | |
| XM_017004821.1:c.66454C>T (TTN) | XP_016860310.1:p.Arg22152Cys | |
| XM_017004822.1:c.63496C>T (TTN) | XP_016860311.1:p.Arg21166Cys | |
| XM_017004823.1:c.45112C>T (TTN) | XP_016860312.1:p.Arg15038Cys | |
| XM_024453094.1:c.66607C>T (TTN) | XP_024308862.1:p.Arg22203Cys | |
| XM_024453095.1:c.66604C>T (TTN) | XP_024308863.1:p.Arg22202Cys | |
| XM_024453096.1:c.66037C>T (TTN) | XP_024308864.1:p.Arg22013Cys | |
| XM_024453097.1:c.63379C>T (TTN) | XP_024308865.1:p.Arg21127Cys | |
| XM_024453098.1:c.63298C>T (TTN) | XP_024308866.1:p.Arg21100Cys | |
| XM_024453099.1:c.45061C>T (TTN) | XP_024308867.1:p.Arg15021Cys | |
| XM_024453100.1:c.34915C>T (TTN) | XP_024308868.1:p.Arg11639Cys |