Linked Data
ClinVar Variation Id:
466659
dbSNP Id:
rs774411587
ExAC:
2:179431565 G / A
gnomAD v2:
2-179431565-G-A
gnomAD v4:
2-178566838-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566838G>A , CM000664.2:g.178566838G>A | GRCh38 |
| NC_000002.11:g.179431565G>A , CM000664.1:g.179431565G>A | GRCh37 |
| NC_000002.10:g.179139811G>A | NCBI36 |
| NG_011618.3:g.268965C>T , LRG_391:g.268965C>T | |
| NG_051363.1:g.49012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71590C>T (TTN) | ENSP00000343764.6:p.Arg23864Ter | |
| ENST00000342175.11:c.52675C>T (TTN) | ENSP00000340554.6:p.Arg17559Ter | |
| ENST00000359218.10:c.52474C>T (TTN) | ENSP00000352154.5:p.Arg17492Ter | |
| ENST00000342175.10:c.52675C>T (TTN) | ENSP00000340554.6:p.Arg17559Ter | |
| ENST00000342992.10:c.71590C>T (TTN) | ENSP00000343764.6:p.Arg23864Ter | |
| ENST00000359218.9:c.52474C>T (TTN) | ENSP00000352154.5:p.Arg17492Ter | |
| ENST00000460472.6:c.52099C>T (TTN) | ENSP00000434586.1:p.Arg17367Ter | |
| ENST00000589042.5:c.79294C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg26432Ter | |
| ENST00000591111.5:c.74371C>T (TTN) | ENSP00000465570.1:p.Arg24791Ter | |
| ENST00000615779.4:c.74371C>T (TTN) | ENSP00000483597.1:p.Arg24791Ter | |
| NM_001256850.1:c.74371C>T (TTN) | NP_001243779.1:p.Arg24791Ter | |
| NM_001267550.2:c.79294C>T (TTN) MANE Select | NP_001254479.2:p.Arg26432Ter | |
| NM_003319.4:c.52099C>T (TTN) | NP_003310.4:p.Arg17367Ter | |
| NM_133378.4:c.71590C>T (TTN) | NP_596869.4:p.Arg23864Ter | |
| NM_133432.3:c.52474C>T (TTN) | NP_597676.3:p.Arg17492Ter | |
| NM_133437.4:c.52675C>T (TTN) | NP_597681.4:p.Arg17559Ter | |
| NR_038271.1:n.447-4462G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-15734G>A (TTN-AS1) | ||
| XM_011511729.1:c.78391C>T (TTN) | XP_011510031.1:p.Arg26131Ter | |
| XM_011511730.1:c.52285C>T (TTN) | XP_011510032.1:p.Arg17429Ter | |
| XM_011511731.1:c.52144C>T (TTN) | XP_011510033.1:p.Arg17382Ter | |
| XM_017004819.1:c.78187C>T (TTN) | XP_016860308.1:p.Arg26063Ter | |
| XM_017004820.1:c.73585C>T (TTN) | XP_016860309.1:p.Arg24529Ter | |
| XM_017004821.1:c.73582C>T (TTN) | XP_016860310.1:p.Arg24528Ter | |
| XM_017004822.1:c.70624C>T (TTN) | XP_016860311.1:p.Arg23542Ter | |
| XM_017004823.1:c.52240C>T (TTN) | XP_016860312.1:p.Arg17414Ter | |
| XM_024453094.1:c.73735C>T (TTN) | XP_024308862.1:p.Arg24579Ter | |
| XM_024453095.1:c.73732C>T (TTN) | XP_024308863.1:p.Arg24578Ter | |
| XM_024453096.1:c.73165C>T (TTN) | XP_024308864.1:p.Arg24389Ter | |
| XM_024453097.1:c.70507C>T (TTN) | XP_024308865.1:p.Arg23503Ter | |
| XM_024453098.1:c.70426C>T (TTN) | XP_024308866.1:p.Arg23476Ter | |
| XM_024453099.1:c.52189C>T (TTN) | XP_024308867.1:p.Arg17397Ter | |
| XM_024453100.1:c.42043C>T (TTN) | XP_024308868.1:p.Arg14015Ter |