Linked Data
ClinVar Variation Id:
404875
dbSNP Id:
rs199726308
ExAC:
2:179429332 C / A
gnomAD v2:
2-179429332-C-A
gnomAD v3:
2-178564605-C-A
gnomAD v4:
2-178564605-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564605C>A , CM000664.2:g.178564605C>A | GRCh38 |
| NC_000002.11:g.179429332C>A , CM000664.1:g.179429332C>A | GRCh37 |
| NC_000002.10:g.179137578C>A | NCBI36 |
| NG_011618.3:g.271198G>T , LRG_391:g.271198G>T | |
| NG_051363.1:g.46779C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73823G>T (TTN) | ENSP00000343764.6:p.Arg24608Leu | |
| ENST00000342175.11:c.54908G>T (TTN) | ENSP00000340554.6:p.Arg18303Leu | |
| ENST00000359218.10:c.54707G>T (TTN) | ENSP00000352154.5:p.Arg18236Leu | |
| ENST00000342175.10:c.54908G>T (TTN) | ENSP00000340554.6:p.Arg18303Leu | |
| ENST00000342992.10:c.73823G>T (TTN) | ENSP00000343764.6:p.Arg24608Leu | |
| ENST00000359218.9:c.54707G>T (TTN) | ENSP00000352154.5:p.Arg18236Leu | |
| ENST00000460472.6:c.54332G>T (TTN) | ENSP00000434586.1:p.Arg18111Leu | |
| ENST00000589042.5:c.81527G>T (TTN) MANE Select | ENSP00000467141.1:p.Arg27176Leu | |
| ENST00000591111.5:c.76604G>T (TTN) | ENSP00000465570.1:p.Arg25535Leu | |
| ENST00000615779.4:c.76604G>T (TTN) | ENSP00000483597.1:p.Arg25535Leu | |
| NM_001256850.1:c.76604G>T (TTN) | NP_001243779.1:p.Arg25535Leu | |
| NM_001267550.2:c.81527G>T (TTN) MANE Select | NP_001254479.2:p.Arg27176Leu | |
| NM_003319.4:c.54332G>T (TTN) | NP_003310.4:p.Arg18111Leu | |
| NM_133378.4:c.73823G>T (TTN) | NP_596869.4:p.Arg24608Leu | |
| NM_133432.3:c.54707G>T (TTN) | NP_597676.3:p.Arg18236Leu | |
| NM_133437.4:c.54908G>T (TTN) | NP_597681.4:p.Arg18303Leu | |
| NR_038271.1:n.447-6695C>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17967C>A (TTN-AS1) | ||
| XM_011511729.1:c.80624G>T (TTN) | XP_011510031.1:p.Arg26875Leu | |
| XM_011511730.1:c.54518G>T (TTN) | XP_011510032.1:p.Arg18173Leu | |
| XM_011511731.1:c.54377G>T (TTN) | XP_011510033.1:p.Arg18126Leu | |
| XM_017004819.1:c.80420G>T (TTN) | XP_016860308.1:p.Arg26807Leu | |
| XM_017004820.1:c.75818G>T (TTN) | XP_016860309.1:p.Arg25273Leu | |
| XM_017004821.1:c.75815G>T (TTN) | XP_016860310.1:p.Arg25272Leu | |
| XM_017004822.1:c.72857G>T (TTN) | XP_016860311.1:p.Arg24286Leu | |
| XM_017004823.1:c.54473G>T (TTN) | XP_016860312.1:p.Arg18158Leu | |
| XM_024453094.1:c.75968G>T (TTN) | XP_024308862.1:p.Arg25323Leu | |
| XM_024453095.1:c.75965G>T (TTN) | XP_024308863.1:p.Arg25322Leu | |
| XM_024453096.1:c.75398G>T (TTN) | XP_024308864.1:p.Arg25133Leu | |
| XM_024453097.1:c.72740G>T (TTN) | XP_024308865.1:p.Arg24247Leu | |
| XM_024453098.1:c.72659G>T (TTN) | XP_024308866.1:p.Arg24220Leu | |
| XM_024453099.1:c.54422G>T (TTN) | XP_024308867.1:p.Arg18141Leu | |
| XM_024453100.1:c.44276G>T (TTN) | XP_024308868.1:p.Arg14759Leu |