Linked Data
ClinVar Variation Id:
380413
dbSNP Id:
rs373509153
ExAC:
2:179410964 G / A
gnomAD v2:
2-179410964-G-A
gnomAD v3:
2-178546237-G-A
gnomAD v4:
2-178546237-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546237G>A , CM000664.2:g.178546237G>A | GRCh38 |
| NC_000002.11:g.179410964G>A , CM000664.1:g.179410964G>A | GRCh37 |
| NC_000002.10:g.179119210G>A | NCBI36 |
| NG_011618.3:g.289566C>T , LRG_391:g.289566C>T | |
| NG_051363.1:g.28411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87390C>T (TTN) | ENSP00000343764.6:p.Ala29130= | |
| ENST00000342175.11:c.68475C>T (TTN) | ENSP00000340554.6:p.Ala22825= | |
| ENST00000359218.10:c.68274C>T (TTN) | ENSP00000352154.5:p.Ala22758= | |
| ENST00000342175.10:c.68475C>T (TTN) | ENSP00000340554.6:p.Ala22825= | |
| ENST00000342992.10:c.87390C>T (TTN) | ENSP00000343764.6:p.Ala29130= | |
| ENST00000359218.9:c.68274C>T (TTN) | ENSP00000352154.5:p.Ala22758= | |
| ENST00000460472.6:c.67899C>T (TTN) | ENSP00000434586.1:p.Ala22633= | |
| ENST00000589042.5:c.95094C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala31698= | |
| ENST00000591111.5:c.90171C>T (TTN) | ENSP00000465570.1:p.Ala30057= | |
| ENST00000615779.4:c.90171C>T (TTN) | ENSP00000483597.1:p.Ala30057= | |
| NM_001256850.1:c.90171C>T (TTN) | NP_001243779.1:p.Ala30057= | |
| NM_001267550.2:c.95094C>T (TTN) MANE Select | NP_001254479.2:p.Ala31698= | |
| NM_003319.4:c.67899C>T (TTN) | NP_003310.4:p.Ala22633= | |
| NM_133378.4:c.87390C>T (TTN) | NP_596869.4:p.Ala29130= | |
| NM_133432.3:c.68274C>T (TTN) | NP_597676.3:p.Ala22758= | |
| NM_133437.4:c.68475C>T (TTN) | NP_597681.4:p.Ala22825= | |
| NR_038271.1:n.446+22601G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3876G>A (TTN-AS1) | ||
| XM_011511729.1:c.94191C>T (TTN) | XP_011510031.1:p.Ala31397= | |
| XM_011511730.1:c.68085C>T (TTN) | XP_011510032.1:p.Ala22695= | |
| XM_011511731.1:c.67944C>T (TTN) | XP_011510033.1:p.Ala22648= | |
| XM_017004819.1:c.93987C>T (TTN) | XP_016860308.1:p.Ala31329= | |
| XM_017004820.1:c.89385C>T (TTN) | XP_016860309.1:p.Ala29795= | |
| XM_017004821.1:c.89382C>T (TTN) | XP_016860310.1:p.Ala29794= | |
| XM_017004822.1:c.86424C>T (TTN) | XP_016860311.1:p.Ala28808= | |
| XM_017004823.1:c.68040C>T (TTN) | XP_016860312.1:p.Ala22680= | |
| XM_024453094.1:c.89535C>T (TTN) | XP_024308862.1:p.Ala29845= | |
| XM_024453095.1:c.89532C>T (TTN) | XP_024308863.1:p.Ala29844= | |
| XM_024453096.1:c.88965C>T (TTN) | XP_024308864.1:p.Ala29655= | |
| XM_024453097.1:c.86307C>T (TTN) | XP_024308865.1:p.Ala28769= | |
| XM_024453098.1:c.86226C>T (TTN) | XP_024308866.1:p.Ala28742= | |
| XM_024453099.1:c.67989C>T (TTN) | XP_024308867.1:p.Ala22663= | |
| XM_024453100.1:c.57843C>T (TTN) | XP_024308868.1:p.Ala19281= |