Linked Data
ClinVar Variation Id:
405024
dbSNP Id:
rs769873625
ExAC:
2:179415722 A / T
gnomAD v2:
2-179415722-A-T
gnomAD v3:
2-178550995-A-T
gnomAD v4:
2-178550995-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550995A>T , CM000664.2:g.178550995A>T | GRCh38 |
| NC_000002.11:g.179415722A>T , CM000664.1:g.179415722A>T | GRCh37 |
| NC_000002.10:g.179123968A>T | NCBI36 |
| NG_011618.3:g.284808T>A , LRG_391:g.284808T>A | |
| NG_051363.1:g.33169A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83832T>A (TTN) | ENSP00000343764.6:p.Ser27944= | |
| ENST00000342175.11:c.64917T>A (TTN) | ENSP00000340554.6:p.Ser21639= | |
| ENST00000359218.10:c.64716T>A (TTN) | ENSP00000352154.5:p.Ser21572= | |
| ENST00000342175.10:c.64917T>A (TTN) | ENSP00000340554.6:p.Ser21639= | |
| ENST00000342992.10:c.83832T>A (TTN) | ENSP00000343764.6:p.Ser27944= | |
| ENST00000359218.9:c.64716T>A (TTN) | ENSP00000352154.5:p.Ser21572= | |
| ENST00000460472.6:c.64341T>A (TTN) | ENSP00000434586.1:p.Ser21447= | |
| ENST00000589042.5:c.91536T>A (TTN) MANE Select | ENSP00000467141.1:p.Ser30512= | |
| ENST00000591111.5:c.86613T>A (TTN) | ENSP00000465570.1:p.Ser28871= | |
| ENST00000615779.4:c.86613T>A (TTN) | ENSP00000483597.1:p.Ser28871= | |
| NM_001256850.1:c.86613T>A (TTN) | NP_001243779.1:p.Ser28871= | |
| NM_001267550.2:c.91536T>A (TTN) MANE Select | NP_001254479.2:p.Ser30512= | |
| NM_003319.4:c.64341T>A (TTN) | NP_003310.4:p.Ser21447= | |
| NM_133378.4:c.83832T>A (TTN) | NP_596869.4:p.Ser27944= | |
| NM_133432.3:c.64716T>A (TTN) | NP_597676.3:p.Ser21572= | |
| NM_133437.4:c.64917T>A (TTN) | NP_597681.4:p.Ser21639= | |
| NR_038271.1:n.447-20305A>T (TTN-AS1) | ||
| NR_038272.1:n.2043+8634A>T (TTN-AS1) | ||
| XM_011511729.1:c.90633T>A (TTN) | XP_011510031.1:p.Ser30211= | |
| XM_011511730.1:c.64527T>A (TTN) | XP_011510032.1:p.Ser21509= | |
| XM_011511731.1:c.64386T>A (TTN) | XP_011510033.1:p.Ser21462= | |
| XM_017004819.1:c.90429T>A (TTN) | XP_016860308.1:p.Ser30143= | |
| XM_017004820.1:c.85827T>A (TTN) | XP_016860309.1:p.Ser28609= | |
| XM_017004821.1:c.85824T>A (TTN) | XP_016860310.1:p.Ser28608= | |
| XM_017004822.1:c.82866T>A (TTN) | XP_016860311.1:p.Ser27622= | |
| XM_017004823.1:c.64482T>A (TTN) | XP_016860312.1:p.Ser21494= | |
| XM_024453094.1:c.85977T>A (TTN) | XP_024308862.1:p.Ser28659= | |
| XM_024453095.1:c.85974T>A (TTN) | XP_024308863.1:p.Ser28658= | |
| XM_024453096.1:c.85407T>A (TTN) | XP_024308864.1:p.Ser28469= | |
| XM_024453097.1:c.82749T>A (TTN) | XP_024308865.1:p.Ser27583= | |
| XM_024453098.1:c.82668T>A (TTN) | XP_024308866.1:p.Ser27556= | |
| XM_024453099.1:c.64431T>A (TTN) | XP_024308867.1:p.Ser21477= | |
| XM_024453100.1:c.54285T>A (TTN) | XP_024308868.1:p.Ser18095= |