Linked Data
ClinVar Variation Id:
467651
dbSNP Id:
rs549841864
ExAC:
2:179413099 G / A
gnomAD v2:
2-179413099-G-A
gnomAD v3:
2-178548372-G-A
gnomAD v4:
2-178548372-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548372G>A , CM000664.2:g.178548372G>A | GRCh38 |
| NC_000002.11:g.179413099G>A , CM000664.1:g.179413099G>A | GRCh37 |
| NC_000002.10:g.179121345G>A | NCBI36 |
| NG_011618.3:g.287431C>T , LRG_391:g.287431C>T | |
| NG_051363.1:g.30546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85550C>T (TTN) | ENSP00000343764.6:p.Pro28517Leu | |
| ENST00000342175.11:c.66635C>T (TTN) | ENSP00000340554.6:p.Pro22212Leu | |
| ENST00000359218.10:c.66434C>T (TTN) | ENSP00000352154.5:p.Pro22145Leu | |
| ENST00000342175.10:c.66635C>T (TTN) | ENSP00000340554.6:p.Pro22212Leu | |
| ENST00000342992.10:c.85550C>T (TTN) | ENSP00000343764.6:p.Pro28517Leu | |
| ENST00000359218.9:c.66434C>T (TTN) | ENSP00000352154.5:p.Pro22145Leu | |
| ENST00000460472.6:c.66059C>T (TTN) | ENSP00000434586.1:p.Pro22020Leu | |
| ENST00000589042.5:c.93254C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro31085Leu | |
| ENST00000591111.5:c.88331C>T (TTN) | ENSP00000465570.1:p.Pro29444Leu | |
| ENST00000615779.4:c.88331C>T (TTN) | ENSP00000483597.1:p.Pro29444Leu | |
| NM_001256850.1:c.88331C>T (TTN) | NP_001243779.1:p.Pro29444Leu | |
| NM_001267550.2:c.93254C>T (TTN) MANE Select | NP_001254479.2:p.Pro31085Leu | |
| NM_003319.4:c.66059C>T (TTN) | NP_003310.4:p.Pro22020Leu | |
| NM_133378.4:c.85550C>T (TTN) | NP_596869.4:p.Pro28517Leu | |
| NM_133432.3:c.66434C>T (TTN) | NP_597676.3:p.Pro22145Leu | |
| NM_133437.4:c.66635C>T (TTN) | NP_597681.4:p.Pro22212Leu | |
| NR_038271.1:n.447-22928G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6011G>A (TTN-AS1) | ||
| XM_011511729.1:c.92351C>T (TTN) | XP_011510031.1:p.Pro30784Leu | |
| XM_011511730.1:c.66245C>T (TTN) | XP_011510032.1:p.Pro22082Leu | |
| XM_011511731.1:c.66104C>T (TTN) | XP_011510033.1:p.Pro22035Leu | |
| XM_017004819.1:c.92147C>T (TTN) | XP_016860308.1:p.Pro30716Leu | |
| XM_017004820.1:c.87545C>T (TTN) | XP_016860309.1:p.Pro29182Leu | |
| XM_017004821.1:c.87542C>T (TTN) | XP_016860310.1:p.Pro29181Leu | |
| XM_017004822.1:c.84584C>T (TTN) | XP_016860311.1:p.Pro28195Leu | |
| XM_017004823.1:c.66200C>T (TTN) | XP_016860312.1:p.Pro22067Leu | |
| XM_024453094.1:c.87695C>T (TTN) | XP_024308862.1:p.Pro29232Leu | |
| XM_024453095.1:c.87692C>T (TTN) | XP_024308863.1:p.Pro29231Leu | |
| XM_024453096.1:c.87125C>T (TTN) | XP_024308864.1:p.Pro29042Leu | |
| XM_024453097.1:c.84467C>T (TTN) | XP_024308865.1:p.Pro28156Leu | |
| XM_024453098.1:c.84386C>T (TTN) | XP_024308866.1:p.Pro28129Leu | |
| XM_024453099.1:c.66149C>T (TTN) | XP_024308867.1:p.Pro22050Leu | |
| XM_024453100.1:c.56003C>T (TTN) | XP_024308868.1:p.Pro18668Leu |