Linked Data
ClinVar Variation Id:
332779
ClinVar RCV Id:
RCV000271308
RCV000324462
RCV000328742
RCV000363785
RCV000376431
RCV002338922
RCV002057619
dbSNP Id:
rs886055246
gnomAD v2:
2-179435481-A-T
gnomAD v3:
2-178570754-A-T
gnomAD v4:
2-178570754-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570754A>T , CM000664.2:g.178570754A>T | GRCh38 |
| NC_000002.11:g.179435481A>T , CM000664.1:g.179435481A>T | GRCh37 |
| NC_000002.10:g.179143727A>T | NCBI36 |
| NG_011618.3:g.265049T>A , LRG_391:g.265049T>A | |
| NG_051363.1:g.52928A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67674T>A (TTN) | ENSP00000343764.6:p.Gly22558= | |
| ENST00000342175.11:c.48759T>A (TTN) | ENSP00000340554.6:p.Gly16253= | |
| ENST00000359218.10:c.48558T>A (TTN) | ENSP00000352154.5:p.Gly16186= | |
| ENST00000342175.10:c.48759T>A (TTN) | ENSP00000340554.6:p.Gly16253= | |
| ENST00000342992.10:c.67674T>A (TTN) | ENSP00000343764.6:p.Gly22558= | |
| ENST00000359218.9:c.48558T>A (TTN) | ENSP00000352154.5:p.Gly16186= | |
| ENST00000460472.6:c.48183T>A (TTN) | ENSP00000434586.1:p.Gly16061= | |
| ENST00000589042.5:c.75378T>A (TTN) MANE Select | ENSP00000467141.1:p.Gly25126= | |
| ENST00000591111.5:c.70455T>A (TTN) | ENSP00000465570.1:p.Gly23485= | |
| ENST00000615779.4:c.70455T>A (TTN) | ENSP00000483597.1:p.Gly23485= | |
| NM_001256850.1:c.70455T>A (TTN) | NP_001243779.1:p.Gly23485= | |
| NM_001267550.2:c.75378T>A (TTN) MANE Select | NP_001254479.2:p.Gly25126= | |
| NM_003319.4:c.48183T>A (TTN) | NP_003310.4:p.Gly16061= | |
| NM_133378.4:c.67674T>A (TTN) | NP_596869.4:p.Gly22558= | |
| NM_133432.3:c.48558T>A (TTN) | NP_597676.3:p.Gly16186= | |
| NM_133437.4:c.48759T>A (TTN) | NP_597681.4:p.Gly16253= | |
| NR_038271.1:n.447-546A>T (TTN-AS1) | ||
| NR_038272.1:n.2044-11818A>T (TTN-AS1) | ||
| XM_011511729.1:c.74475T>A (TTN) | XP_011510031.1:p.Gly24825= | |
| XM_011511730.1:c.48369T>A (TTN) | XP_011510032.1:p.Gly16123= | |
| XM_011511731.1:c.48228T>A (TTN) | XP_011510033.1:p.Gly16076= | |
| XM_017004819.1:c.74271T>A (TTN) | XP_016860308.1:p.Gly24757= | |
| XM_017004820.1:c.69669T>A (TTN) | XP_016860309.1:p.Gly23223= | |
| XM_017004821.1:c.69666T>A (TTN) | XP_016860310.1:p.Gly23222= | |
| XM_017004822.1:c.66708T>A (TTN) | XP_016860311.1:p.Gly22236= | |
| XM_017004823.1:c.48324T>A (TTN) | XP_016860312.1:p.Gly16108= | |
| XM_024453094.1:c.69819T>A (TTN) | XP_024308862.1:p.Gly23273= | |
| XM_024453095.1:c.69816T>A (TTN) | XP_024308863.1:p.Gly23272= | |
| XM_024453096.1:c.69249T>A (TTN) | XP_024308864.1:p.Gly23083= | |
| XM_024453097.1:c.66591T>A (TTN) | XP_024308865.1:p.Gly22197= | |
| XM_024453098.1:c.66510T>A (TTN) | XP_024308866.1:p.Gly22170= | |
| XM_024453099.1:c.48273T>A (TTN) | XP_024308867.1:p.Gly16091= | |
| XM_024453100.1:c.38127T>A (TTN) | XP_024308868.1:p.Gly12709= |