Linked Data
ClinVar Variation Id:
405008
dbSNP Id:
rs1060500525
gnomAD v3:
2-178559797-G-A
gnomAD v4:
2-178559797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559797G>A , CM000664.2:g.178559797G>A | GRCh38 |
| NC_000002.11:g.179424524G>A , CM000664.1:g.179424524G>A | GRCh37 |
| NC_000002.10:g.179132770G>A | NCBI36 |
| NG_011618.3:g.276006C>T , LRG_391:g.276006C>T | |
| NG_051363.1:g.41971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78631C>T (TTN) | ENSP00000343764.6:p.Arg26211Ter | |
| ENST00000342175.11:c.59716C>T (TTN) | ENSP00000340554.6:p.Arg19906Ter | |
| ENST00000359218.10:c.59515C>T (TTN) | ENSP00000352154.5:p.Arg19839Ter | |
| ENST00000342175.10:c.59716C>T (TTN) | ENSP00000340554.6:p.Arg19906Ter | |
| ENST00000342992.10:c.78631C>T (TTN) | ENSP00000343764.6:p.Arg26211Ter | |
| ENST00000359218.9:c.59515C>T (TTN) | ENSP00000352154.5:p.Arg19839Ter | |
| ENST00000460472.6:c.59140C>T (TTN) | ENSP00000434586.1:p.Arg19714Ter | |
| ENST00000589042.5:c.86335C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg28779Ter | |
| ENST00000591111.5:c.81412C>T (TTN) | ENSP00000465570.1:p.Arg27138Ter | |
| ENST00000615779.4:c.81412C>T (TTN) | ENSP00000483597.1:p.Arg27138Ter | |
| NM_001256850.1:c.81412C>T (TTN) | NP_001243779.1:p.Arg27138Ter | |
| NM_001267550.2:c.86335C>T (TTN) MANE Select | NP_001254479.2:p.Arg28779Ter | |
| NM_003319.4:c.59140C>T (TTN) | NP_003310.4:p.Arg19714Ter | |
| NM_133378.4:c.78631C>T (TTN) | NP_596869.4:p.Arg26211Ter | |
| NM_133432.3:c.59515C>T (TTN) | NP_597676.3:p.Arg19839Ter | |
| NM_133437.4:c.59716C>T (TTN) | NP_597681.4:p.Arg19906Ter | |
| NR_038271.1:n.447-11503G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+17436G>A (TTN-AS1) | ||
| XM_011511729.1:c.85432C>T (TTN) | XP_011510031.1:p.Arg28478Ter | |
| XM_011511730.1:c.59326C>T (TTN) | XP_011510032.1:p.Arg19776Ter | |
| XM_011511731.1:c.59185C>T (TTN) | XP_011510033.1:p.Arg19729Ter | |
| XM_017004819.1:c.85228C>T (TTN) | XP_016860308.1:p.Arg28410Ter | |
| XM_017004820.1:c.80626C>T (TTN) | XP_016860309.1:p.Arg26876Ter | |
| XM_017004821.1:c.80623C>T (TTN) | XP_016860310.1:p.Arg26875Ter | |
| XM_017004822.1:c.77665C>T (TTN) | XP_016860311.1:p.Arg25889Ter | |
| XM_017004823.1:c.59281C>T (TTN) | XP_016860312.1:p.Arg19761Ter | |
| XM_024453094.1:c.80776C>T (TTN) | XP_024308862.1:p.Arg26926Ter | |
| XM_024453095.1:c.80773C>T (TTN) | XP_024308863.1:p.Arg26925Ter | |
| XM_024453096.1:c.80206C>T (TTN) | XP_024308864.1:p.Arg26736Ter | |
| XM_024453097.1:c.77548C>T (TTN) | XP_024308865.1:p.Arg25850Ter | |
| XM_024453098.1:c.77467C>T (TTN) | XP_024308866.1:p.Arg25823Ter | |
| XM_024453099.1:c.59230C>T (TTN) | XP_024308867.1:p.Arg19744Ter | |
| XM_024453100.1:c.49084C>T (TTN) | XP_024308868.1:p.Arg16362Ter |