Linked Data
ClinVar Variation Id:
47454
dbSNP Id:
rs200709344
ExAC:
2:179424388 G / A
gnomAD v2:
2-179424388-G-A
gnomAD v3:
2-178559661-G-A
gnomAD v4:
2-178559661-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559661G>A , CM000664.2:g.178559661G>A | GRCh38 |
| NC_000002.11:g.179424388G>A , CM000664.1:g.179424388G>A | GRCh37 |
| NC_000002.10:g.179132634G>A | NCBI36 |
| NG_011618.3:g.276142C>T , LRG_391:g.276142C>T | |
| NG_051363.1:g.41835G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78767C>T (TTN) | ENSP00000343764.6:p.Thr26256Ile | |
| ENST00000342175.11:c.59852C>T (TTN) | ENSP00000340554.6:p.Thr19951Ile | |
| ENST00000359218.10:c.59651C>T (TTN) | ENSP00000352154.5:p.Thr19884Ile | |
| ENST00000342175.10:c.59852C>T (TTN) | ENSP00000340554.6:p.Thr19951Ile | |
| ENST00000342992.10:c.78767C>T (TTN) | ENSP00000343764.6:p.Thr26256Ile | |
| ENST00000359218.9:c.59651C>T (TTN) | ENSP00000352154.5:p.Thr19884Ile | |
| ENST00000460472.6:c.59276C>T (TTN) | ENSP00000434586.1:p.Thr19759Ile | |
| ENST00000589042.5:c.86471C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr28824Ile | |
| ENST00000591111.5:c.81548C>T (TTN) | ENSP00000465570.1:p.Thr27183Ile | |
| ENST00000615779.4:c.81548C>T (TTN) | ENSP00000483597.1:p.Thr27183Ile | |
| NM_001256850.1:c.81548C>T (TTN) | NP_001243779.1:p.Thr27183Ile | |
| NM_001267550.2:c.86471C>T (TTN) MANE Select | NP_001254479.2:p.Thr28824Ile | |
| NM_003319.4:c.59276C>T (TTN) | NP_003310.4:p.Thr19759Ile | |
| NM_133378.4:c.78767C>T (TTN) | NP_596869.4:p.Thr26256Ile | |
| NM_133432.3:c.59651C>T (TTN) | NP_597676.3:p.Thr19884Ile | |
| NM_133437.4:c.59852C>T (TTN) | NP_597681.4:p.Thr19951Ile | |
| NR_038271.1:n.447-11639G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+17300G>A (TTN-AS1) | ||
| XM_011511729.1:c.85568C>T (TTN) | XP_011510031.1:p.Thr28523Ile | |
| XM_011511730.1:c.59462C>T (TTN) | XP_011510032.1:p.Thr19821Ile | |
| XM_011511731.1:c.59321C>T (TTN) | XP_011510033.1:p.Thr19774Ile | |
| XM_017004819.1:c.85364C>T (TTN) | XP_016860308.1:p.Thr28455Ile | |
| XM_017004820.1:c.80762C>T (TTN) | XP_016860309.1:p.Thr26921Ile | |
| XM_017004821.1:c.80759C>T (TTN) | XP_016860310.1:p.Thr26920Ile | |
| XM_017004822.1:c.77801C>T (TTN) | XP_016860311.1:p.Thr25934Ile | |
| XM_017004823.1:c.59417C>T (TTN) | XP_016860312.1:p.Thr19806Ile | |
| XM_024453094.1:c.80912C>T (TTN) | XP_024308862.1:p.Thr26971Ile | |
| XM_024453095.1:c.80909C>T (TTN) | XP_024308863.1:p.Thr26970Ile | |
| XM_024453096.1:c.80342C>T (TTN) | XP_024308864.1:p.Thr26781Ile | |
| XM_024453097.1:c.77684C>T (TTN) | XP_024308865.1:p.Thr25895Ile | |
| XM_024453098.1:c.77603C>T (TTN) | XP_024308866.1:p.Thr25868Ile | |
| XM_024453099.1:c.59366C>T (TTN) | XP_024308867.1:p.Thr19789Ile | |
| XM_024453100.1:c.49220C>T (TTN) | XP_024308868.1:p.Thr16407Ile |