Linked Data
ClinVar Variation Id:
167764
dbSNP Id:
rs369528150
ExAC:
2:179424834 C / T
gnomAD v2:
2-179424834-C-T
gnomAD v3:
2-178560107-C-T
gnomAD v4:
2-178560107-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560107C>T , CM000664.2:g.178560107C>T | GRCh38 |
| NC_000002.11:g.179424834C>T , CM000664.1:g.179424834C>T | GRCh37 |
| NC_000002.10:g.179133080C>T | NCBI36 |
| NG_011618.3:g.275696G>A , LRG_391:g.275696G>A | |
| NG_051363.1:g.42281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78321G>A (TTN) | ENSP00000343764.6:p.Pro26107= | |
| ENST00000342175.11:c.59406G>A (TTN) | ENSP00000340554.6:p.Pro19802= | |
| ENST00000359218.10:c.59205G>A (TTN) | ENSP00000352154.5:p.Pro19735= | |
| ENST00000342175.10:c.59406G>A (TTN) | ENSP00000340554.6:p.Pro19802= | |
| ENST00000342992.10:c.78321G>A (TTN) | ENSP00000343764.6:p.Pro26107= | |
| ENST00000359218.9:c.59205G>A (TTN) | ENSP00000352154.5:p.Pro19735= | |
| ENST00000460472.6:c.58830G>A (TTN) | ENSP00000434586.1:p.Pro19610= | |
| ENST00000589042.5:c.86025G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro28675= | |
| ENST00000591111.5:c.81102G>A (TTN) | ENSP00000465570.1:p.Pro27034= | |
| ENST00000615779.4:c.81102G>A (TTN) | ENSP00000483597.1:p.Pro27034= | |
| NM_001256850.1:c.81102G>A (TTN) | NP_001243779.1:p.Pro27034= | |
| NM_001267550.2:c.86025G>A (TTN) MANE Select | NP_001254479.2:p.Pro28675= | |
| NM_003319.4:c.58830G>A (TTN) | NP_003310.4:p.Pro19610= | |
| NM_133378.4:c.78321G>A (TTN) | NP_596869.4:p.Pro26107= | |
| NM_133432.3:c.59205G>A (TTN) | NP_597676.3:p.Pro19735= | |
| NM_133437.4:c.59406G>A (TTN) | NP_597681.4:p.Pro19802= | |
| NR_038271.1:n.447-11193C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+17746C>T (TTN-AS1) | ||
| XM_011511729.1:c.85122G>A (TTN) | XP_011510031.1:p.Pro28374= | |
| XM_011511730.1:c.59016G>A (TTN) | XP_011510032.1:p.Pro19672= | |
| XM_011511731.1:c.58875G>A (TTN) | XP_011510033.1:p.Pro19625= | |
| XM_017004819.1:c.84918G>A (TTN) | XP_016860308.1:p.Pro28306= | |
| XM_017004820.1:c.80316G>A (TTN) | XP_016860309.1:p.Pro26772= | |
| XM_017004821.1:c.80313G>A (TTN) | XP_016860310.1:p.Pro26771= | |
| XM_017004822.1:c.77355G>A (TTN) | XP_016860311.1:p.Pro25785= | |
| XM_017004823.1:c.58971G>A (TTN) | XP_016860312.1:p.Pro19657= | |
| XM_024453094.1:c.80466G>A (TTN) | XP_024308862.1:p.Pro26822= | |
| XM_024453095.1:c.80463G>A (TTN) | XP_024308863.1:p.Pro26821= | |
| XM_024453096.1:c.79896G>A (TTN) | XP_024308864.1:p.Pro26632= | |
| XM_024453097.1:c.77238G>A (TTN) | XP_024308865.1:p.Pro25746= | |
| XM_024453098.1:c.77157G>A (TTN) | XP_024308866.1:p.Pro25719= | |
| XM_024453099.1:c.58920G>A (TTN) | XP_024308867.1:p.Pro19640= | |
| XM_024453100.1:c.48774G>A (TTN) | XP_024308868.1:p.Pro16258= |