Linked Data
ClinVar Variation Id:
467590
dbSNP Id:
rs750591986
ExAC:
2:179423185 C / T
gnomAD v2:
2-179423185-C-T
gnomAD v3:
2-178558458-C-T
gnomAD v4:
2-178558458-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558458C>T , CM000664.2:g.178558458C>T | GRCh38 |
| NC_000002.11:g.179423185C>T , CM000664.1:g.179423185C>T | GRCh37 |
| NC_000002.10:g.179131431C>T | NCBI36 |
| NG_011618.3:g.277345G>A , LRG_391:g.277345G>A | |
| NG_051363.1:g.40632C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79297G>A (TTN) | ENSP00000343764.6:p.Val26433Ile | |
| ENST00000342175.11:c.60382G>A (TTN) | ENSP00000340554.6:p.Val20128Ile | |
| ENST00000359218.10:c.60181G>A (TTN) | ENSP00000352154.5:p.Val20061Ile | |
| ENST00000342175.10:c.60382G>A (TTN) | ENSP00000340554.6:p.Val20128Ile | |
| ENST00000342992.10:c.79297G>A (TTN) | ENSP00000343764.6:p.Val26433Ile | |
| ENST00000359218.9:c.60181G>A (TTN) | ENSP00000352154.5:p.Val20061Ile | |
| ENST00000460472.6:c.59806G>A (TTN) | ENSP00000434586.1:p.Val19936Ile | |
| ENST00000589042.5:c.87001G>A (TTN) MANE Select | ENSP00000467141.1:p.Val29001Ile | |
| ENST00000591111.5:c.82078G>A (TTN) | ENSP00000465570.1:p.Val27360Ile | |
| ENST00000615779.4:c.82078G>A (TTN) | ENSP00000483597.1:p.Val27360Ile | |
| NM_001256850.1:c.82078G>A (TTN) | NP_001243779.1:p.Val27360Ile | |
| NM_001267550.2:c.87001G>A (TTN) MANE Select | NP_001254479.2:p.Val29001Ile | |
| NM_003319.4:c.59806G>A (TTN) | NP_003310.4:p.Val19936Ile | |
| NM_133378.4:c.79297G>A (TTN) | NP_596869.4:p.Val26433Ile | |
| NM_133432.3:c.60181G>A (TTN) | NP_597676.3:p.Val20061Ile | |
| NM_133437.4:c.60382G>A (TTN) | NP_597681.4:p.Val20128Ile | |
| NR_038271.1:n.447-12842C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+16097C>T (TTN-AS1) | ||
| XM_011511729.1:c.86098G>A (TTN) | XP_011510031.1:p.Val28700Ile | |
| XM_011511730.1:c.59992G>A (TTN) | XP_011510032.1:p.Val19998Ile | |
| XM_011511731.1:c.59851G>A (TTN) | XP_011510033.1:p.Val19951Ile | |
| XM_017004819.1:c.85894G>A (TTN) | XP_016860308.1:p.Val28632Ile | |
| XM_017004820.1:c.81292G>A (TTN) | XP_016860309.1:p.Val27098Ile | |
| XM_017004821.1:c.81289G>A (TTN) | XP_016860310.1:p.Val27097Ile | |
| XM_017004822.1:c.78331G>A (TTN) | XP_016860311.1:p.Val26111Ile | |
| XM_017004823.1:c.59947G>A (TTN) | XP_016860312.1:p.Val19983Ile | |
| XM_024453094.1:c.81442G>A (TTN) | XP_024308862.1:p.Val27148Ile | |
| XM_024453095.1:c.81439G>A (TTN) | XP_024308863.1:p.Val27147Ile | |
| XM_024453096.1:c.80872G>A (TTN) | XP_024308864.1:p.Val26958Ile | |
| XM_024453097.1:c.78214G>A (TTN) | XP_024308865.1:p.Val26072Ile | |
| XM_024453098.1:c.78133G>A (TTN) | XP_024308866.1:p.Val26045Ile | |
| XM_024453099.1:c.59896G>A (TTN) | XP_024308867.1:p.Val19966Ile | |
| XM_024453100.1:c.49750G>A (TTN) | XP_024308868.1:p.Val16584Ile |