Linked Data
ClinVar Variation Id:
467204
dbSNP Id:
rs377563403
ExAC:
2:179480116 G / A
gnomAD v2:
2-179480116-G-A
gnomAD v3:
2-178615389-G-A
gnomAD v4:
2-178615389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615389G>A , CM000664.2:g.178615389G>A | GRCh38 |
| NC_000002.11:g.179480116G>A , CM000664.1:g.179480116G>A | GRCh37 |
| NC_000002.10:g.179188361G>A | NCBI36 |
| NG_011618.3:g.220414C>T , LRG_391:g.220414C>T | |
| NG_051363.1:g.97563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40852C>T (TTN) | ENSP00000343764.6:p.Arg13618Cys | |
| ENST00000342175.11:c.21937C>T (TTN) | ENSP00000340554.6:p.Arg7313Cys | |
| ENST00000359218.10:c.21736C>T (TTN) | ENSP00000352154.5:p.Arg7246Cys | |
| ENST00000342175.10:c.21937C>T (TTN) | ENSP00000340554.6:p.Arg7313Cys | |
| ENST00000342992.10:c.40852C>T (TTN) | ENSP00000343764.6:p.Arg13618Cys | |
| ENST00000359218.9:c.21736C>T (TTN) | ENSP00000352154.5:p.Arg7246Cys | |
| ENST00000460472.6:c.21361C>T (TTN) | ENSP00000434586.1:p.Arg7121Cys | |
| ENST00000589042.5:c.48556C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg16186Cys | |
| ENST00000591111.5:c.43633C>T (TTN) | ENSP00000465570.1:p.Arg14545Cys | |
| ENST00000615779.4:c.43633C>T (TTN) | ENSP00000483597.1:p.Arg14545Cys | |
| NM_001256850.1:c.43633C>T (TTN) | NP_001243779.1:p.Arg14545Cys | |
| NM_001267550.2:c.48556C>T (TTN) MANE Select | NP_001254479.2:p.Arg16186Cys | |
| NM_003319.4:c.21361C>T (TTN) | NP_003310.4:p.Arg7121Cys | |
| NM_133378.4:c.40852C>T (TTN) | NP_596869.4:p.Arg13618Cys | |
| NM_133432.3:c.21736C>T (TTN) | NP_597676.3:p.Arg7246Cys | |
| NM_133437.4:c.21937C>T (TTN) | NP_597681.4:p.Arg7313Cys | |
| NR_038271.1:n.1604+15G>A (TTN-AS1) | ||
| XM_011511729.1:c.47653C>T (TTN) | XP_011510031.1:p.Arg15885Cys | |
| XM_011511730.1:c.21547C>T (TTN) | XP_011510032.1:p.Arg7183Cys | |
| XM_011511731.1:c.21406C>T (TTN) | XP_011510033.1:p.Arg7136Cys | |
| XM_017004819.1:c.47449C>T (TTN) | XP_016860308.1:p.Arg15817Cys | |
| XM_017004820.1:c.42847C>T (TTN) | XP_016860309.1:p.Arg14283Cys | |
| XM_017004821.1:c.42844C>T (TTN) | XP_016860310.1:p.Arg14282Cys | |
| XM_017004822.1:c.39886C>T (TTN) | XP_016860311.1:p.Arg13296Cys | |
| XM_017004823.1:c.21502C>T (TTN) | XP_016860312.1:p.Arg7168Cys | |
| XM_024453094.1:c.42997C>T (TTN) | XP_024308862.1:p.Arg14333Cys | |
| XM_024453095.1:c.42994C>T (TTN) | XP_024308863.1:p.Arg14332Cys | |
| XM_024453096.1:c.42427C>T (TTN) | XP_024308864.1:p.Arg14143Cys | |
| XM_024453097.1:c.39769C>T (TTN) | XP_024308865.1:p.Arg13257Cys | |
| XM_024453098.1:c.39688C>T (TTN) | XP_024308866.1:p.Arg13230Cys | |
| XM_024453099.1:c.21451C>T (TTN) | XP_024308867.1:p.Arg7151Cys | |
| XM_024453100.1:c.11305C>T (TTN) | XP_024308868.1:p.Arg3769Cys |