Linked Data
ClinVar Variation Id:
404871
ClinVar RCV Id:
RCV002506097
dbSNP Id:
rs778953994
ExAC:
2:179455745 A / C
gnomAD v2:
2-179455745-A-C
gnomAD v3:
2-178591018-A-C
gnomAD v4:
2-178591018-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591018A>C , CM000664.2:g.178591018A>C | GRCh38 |
| NC_000002.11:g.179455745A>C , CM000664.1:g.179455745A>C | GRCh37 |
| NC_000002.10:g.179163991A>C | NCBI36 |
| NG_011618.3:g.244785T>G , LRG_391:g.244785T>G | |
| NG_051363.1:g.73192A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.53003T>G (TTN) | ENSP00000343764.6:p.Leu17668Arg | |
| ENST00000342175.11:c.34088T>G (TTN) | ENSP00000340554.6:p.Leu11363Arg | |
| ENST00000359218.10:c.33887T>G (TTN) | ENSP00000352154.5:p.Leu11296Arg | |
| ENST00000342175.10:c.34088T>G (TTN) | ENSP00000340554.6:p.Leu11363Arg | |
| ENST00000342992.10:c.53003T>G (TTN) | ENSP00000343764.6:p.Leu17668Arg | |
| ENST00000359218.9:c.33887T>G (TTN) | ENSP00000352154.5:p.Leu11296Arg | |
| ENST00000460472.6:c.33512T>G (TTN) | ENSP00000434586.1:p.Leu11171Arg | |
| ENST00000589042.5:c.60707T>G (TTN) MANE Select | ENSP00000467141.1:p.Leu20236Arg | |
| ENST00000591111.5:c.55784T>G (TTN) | ENSP00000465570.1:p.Leu18595Arg | |
| ENST00000615779.4:c.55784T>G (TTN) | ENSP00000483597.1:p.Leu18595Arg | |
| NM_001256850.1:c.55784T>G (TTN) | NP_001243779.1:p.Leu18595Arg | |
| NM_001267550.2:c.60707T>G (TTN) MANE Select | NP_001254479.2:p.Leu20236Arg | |
| NM_003319.4:c.33512T>G (TTN) | NP_003310.4:p.Leu11171Arg | |
| NM_133378.4:c.53003T>G (TTN) | NP_596869.4:p.Leu17668Arg | |
| NM_133432.3:c.33887T>G (TTN) | NP_597676.3:p.Leu11296Arg | |
| NM_133437.4:c.34088T>G (TTN) | NP_597681.4:p.Leu11363Arg | |
| NR_038271.1:n.597-6578A>C (TTN-AS1) | ||
| NR_038272.1:n.3189-121A>C (TTN-AS1) | ||
| XM_011511729.1:c.59804T>G (TTN) | XP_011510031.1:p.Leu19935Arg | |
| XM_011511730.1:c.33698T>G (TTN) | XP_011510032.1:p.Leu11233Arg | |
| XM_011511731.1:c.33557T>G (TTN) | XP_011510033.1:p.Leu11186Arg | |
| XM_017004819.1:c.59600T>G (TTN) | XP_016860308.1:p.Leu19867Arg | |
| XM_017004820.1:c.54998T>G (TTN) | XP_016860309.1:p.Leu18333Arg | |
| XM_017004821.1:c.54995T>G (TTN) | XP_016860310.1:p.Leu18332Arg | |
| XM_017004822.1:c.52037T>G (TTN) | XP_016860311.1:p.Leu17346Arg | |
| XM_017004823.1:c.33653T>G (TTN) | XP_016860312.1:p.Leu11218Arg | |
| XM_024453094.1:c.55148T>G (TTN) | XP_024308862.1:p.Leu18383Arg | |
| XM_024453095.1:c.55145T>G (TTN) | XP_024308863.1:p.Leu18382Arg | |
| XM_024453096.1:c.54578T>G (TTN) | XP_024308864.1:p.Leu18193Arg | |
| XM_024453097.1:c.51920T>G (TTN) | XP_024308865.1:p.Leu17307Arg | |
| XM_024453098.1:c.51839T>G (TTN) | XP_024308866.1:p.Leu17280Arg | |
| XM_024453099.1:c.33602T>G (TTN) | XP_024308867.1:p.Leu11201Arg | |
| XM_024453100.1:c.23456T>G (TTN) | XP_024308868.1:p.Leu7819Arg |