Linked Data
ClinVar Variation Id:
290463
dbSNP Id:
rs886044458
gnomAD v3:
2-178550089-G-A
gnomAD v4:
2-178550089-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550089G>A , CM000664.2:g.178550089G>A | GRCh38 |
| NC_000002.11:g.179414816G>A , CM000664.1:g.179414816G>A | GRCh37 |
| NC_000002.10:g.179123062G>A | NCBI36 |
| NG_011618.3:g.285714C>T , LRG_391:g.285714C>T | |
| NG_051363.1:g.32263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84045C>T (TTN) | ENSP00000343764.6:p.Ser28015= | |
| ENST00000342175.11:c.65130C>T (TTN) | ENSP00000340554.6:p.Ser21710= | |
| ENST00000359218.10:c.64929C>T (TTN) | ENSP00000352154.5:p.Ser21643= | |
| ENST00000342175.10:c.65130C>T (TTN) | ENSP00000340554.6:p.Ser21710= | |
| ENST00000342992.10:c.84045C>T (TTN) | ENSP00000343764.6:p.Ser28015= | |
| ENST00000359218.9:c.64929C>T (TTN) | ENSP00000352154.5:p.Ser21643= | |
| ENST00000460472.6:c.64554C>T (TTN) | ENSP00000434586.1:p.Ser21518= | |
| ENST00000589042.5:c.91749C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser30583= | |
| ENST00000591111.5:c.86826C>T (TTN) | ENSP00000465570.1:p.Ser28942= | |
| ENST00000615779.4:c.86826C>T (TTN) | ENSP00000483597.1:p.Ser28942= | |
| NM_001256850.1:c.86826C>T (TTN) | NP_001243779.1:p.Ser28942= | |
| NM_001267550.2:c.91749C>T (TTN) MANE Select | NP_001254479.2:p.Ser30583= | |
| NM_003319.4:c.64554C>T (TTN) | NP_003310.4:p.Ser21518= | |
| NM_133378.4:c.84045C>T (TTN) | NP_596869.4:p.Ser28015= | |
| NM_133432.3:c.64929C>T (TTN) | NP_597676.3:p.Ser21643= | |
| NM_133437.4:c.65130C>T (TTN) | NP_597681.4:p.Ser21710= | |
| NR_038271.1:n.447-21211G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7728G>A (TTN-AS1) | ||
| XM_011511729.1:c.90846C>T (TTN) | XP_011510031.1:p.Ser30282= | |
| XM_011511730.1:c.64740C>T (TTN) | XP_011510032.1:p.Ser21580= | |
| XM_011511731.1:c.64599C>T (TTN) | XP_011510033.1:p.Ser21533= | |
| XM_017004819.1:c.90642C>T (TTN) | XP_016860308.1:p.Ser30214= | |
| XM_017004820.1:c.86040C>T (TTN) | XP_016860309.1:p.Ser28680= | |
| XM_017004821.1:c.86037C>T (TTN) | XP_016860310.1:p.Ser28679= | |
| XM_017004822.1:c.83079C>T (TTN) | XP_016860311.1:p.Ser27693= | |
| XM_017004823.1:c.64695C>T (TTN) | XP_016860312.1:p.Ser21565= | |
| XM_024453094.1:c.86190C>T (TTN) | XP_024308862.1:p.Ser28730= | |
| XM_024453095.1:c.86187C>T (TTN) | XP_024308863.1:p.Ser28729= | |
| XM_024453096.1:c.85620C>T (TTN) | XP_024308864.1:p.Ser28540= | |
| XM_024453097.1:c.82962C>T (TTN) | XP_024308865.1:p.Ser27654= | |
| XM_024453098.1:c.82881C>T (TTN) | XP_024308866.1:p.Ser27627= | |
| XM_024453099.1:c.64644C>T (TTN) | XP_024308867.1:p.Ser21548= | |
| XM_024453100.1:c.54498C>T (TTN) | XP_024308868.1:p.Ser18166= |