Linked Data
ClinVar Variation Id:
535127
dbSNP Id:
rs937111656
gnomAD v3:
2-178563684-T-C
gnomAD v4:
2-178563684-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563684T>C , CM000664.2:g.178563684T>C | GRCh38 |
| NC_000002.11:g.179428411T>C , CM000664.1:g.179428411T>C | GRCh37 |
| NC_000002.10:g.179136657T>C | NCBI36 |
| NG_011618.3:g.272119A>G , LRG_391:g.272119A>G | |
| NG_051363.1:g.45858T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74744A>G (TTN) | ENSP00000343764.6:p.Lys24915Arg | |
| ENST00000342175.11:c.55829A>G (TTN) | ENSP00000340554.6:p.Lys18610Arg | |
| ENST00000359218.10:c.55628A>G (TTN) | ENSP00000352154.5:p.Lys18543Arg | |
| ENST00000342175.10:c.55829A>G (TTN) | ENSP00000340554.6:p.Lys18610Arg | |
| ENST00000342992.10:c.74744A>G (TTN) | ENSP00000343764.6:p.Lys24915Arg | |
| ENST00000359218.9:c.55628A>G (TTN) | ENSP00000352154.5:p.Lys18543Arg | |
| ENST00000460472.6:c.55253A>G (TTN) | ENSP00000434586.1:p.Lys18418Arg | |
| ENST00000589042.5:c.82448A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys27483Arg | |
| ENST00000591111.5:c.77525A>G (TTN) | ENSP00000465570.1:p.Lys25842Arg | |
| ENST00000615779.4:c.77525A>G (TTN) | ENSP00000483597.1:p.Lys25842Arg | |
| NM_001256850.1:c.77525A>G (TTN) | NP_001243779.1:p.Lys25842Arg | |
| NM_001267550.2:c.82448A>G (TTN) MANE Select | NP_001254479.2:p.Lys27483Arg | |
| NM_003319.4:c.55253A>G (TTN) | NP_003310.4:p.Lys18418Arg | |
| NM_133378.4:c.74744A>G (TTN) | NP_596869.4:p.Lys24915Arg | |
| NM_133432.3:c.55628A>G (TTN) | NP_597676.3:p.Lys18543Arg | |
| NM_133437.4:c.55829A>G (TTN) | NP_597681.4:p.Lys18610Arg | |
| NR_038271.1:n.447-7616T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-18888T>C (TTN-AS1) | ||
| XM_011511729.1:c.81545A>G (TTN) | XP_011510031.1:p.Lys27182Arg | |
| XM_011511730.1:c.55439A>G (TTN) | XP_011510032.1:p.Lys18480Arg | |
| XM_011511731.1:c.55298A>G (TTN) | XP_011510033.1:p.Lys18433Arg | |
| XM_017004819.1:c.81341A>G (TTN) | XP_016860308.1:p.Lys27114Arg | |
| XM_017004820.1:c.76739A>G (TTN) | XP_016860309.1:p.Lys25580Arg | |
| XM_017004821.1:c.76736A>G (TTN) | XP_016860310.1:p.Lys25579Arg | |
| XM_017004822.1:c.73778A>G (TTN) | XP_016860311.1:p.Lys24593Arg | |
| XM_017004823.1:c.55394A>G (TTN) | XP_016860312.1:p.Lys18465Arg | |
| XM_024453094.1:c.76889A>G (TTN) | XP_024308862.1:p.Lys25630Arg | |
| XM_024453095.1:c.76886A>G (TTN) | XP_024308863.1:p.Lys25629Arg | |
| XM_024453096.1:c.76319A>G (TTN) | XP_024308864.1:p.Lys25440Arg | |
| XM_024453097.1:c.73661A>G (TTN) | XP_024308865.1:p.Lys24554Arg | |
| XM_024453098.1:c.73580A>G (TTN) | XP_024308866.1:p.Lys24527Arg | |
| XM_024453099.1:c.55343A>G (TTN) | XP_024308867.1:p.Lys18448Arg | |
| XM_024453100.1:c.45197A>G (TTN) | XP_024308868.1:p.Lys15066Arg |