Linked Data
dbSNP Id:
rs377462274
ExAC:
2:179409038 G / A
gnomAD v2:
2-179409038-G-A
gnomAD v3:
2-178544311-G-A
gnomAD v4:
2-178544311-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544311G>A , CM000664.2:g.178544311G>A | GRCh38 |
| NC_000002.11:g.179409038G>A , CM000664.1:g.179409038G>A | GRCh37 |
| NC_000002.10:g.179117284G>A | NCBI36 |
| NG_011618.3:g.291492C>T , LRG_391:g.291492C>T | |
| NG_051363.1:g.26485G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.88214C>T (TTN) | ENSP00000343764.6:p.Pro29405Leu | |
| ENST00000342175.11:c.69299C>T (TTN) | ENSP00000340554.6:p.Pro23100Leu | |
| ENST00000359218.10:c.69098C>T (TTN) | ENSP00000352154.5:p.Pro23033Leu | |
| ENST00000342175.10:c.69299C>T (TTN) | ENSP00000340554.6:p.Pro23100Leu | |
| ENST00000342992.10:c.88214C>T (TTN) | ENSP00000343764.6:p.Pro29405Leu | |
| ENST00000359218.9:c.69098C>T (TTN) | ENSP00000352154.5:p.Pro23033Leu | |
| ENST00000460472.6:c.68723C>T (TTN) | ENSP00000434586.1:p.Pro22908Leu | |
| ENST00000589042.5:c.95918C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro31973Leu | |
| ENST00000591111.5:c.90995C>T (TTN) | ENSP00000465570.1:p.Pro30332Leu | |
| ENST00000615779.4:c.90995C>T (TTN) | ENSP00000483597.1:p.Pro30332Leu | |
| NM_001256850.1:c.90995C>T (TTN) | NP_001243779.1:p.Pro30332Leu | |
| NM_001267550.2:c.95918C>T (TTN) MANE Select | NP_001254479.2:p.Pro31973Leu | |
| NM_003319.4:c.68723C>T (TTN) | NP_003310.4:p.Pro22908Leu | |
| NM_133378.4:c.88214C>T (TTN) | NP_596869.4:p.Pro29405Leu | |
| NM_133432.3:c.69098C>T (TTN) | NP_597676.3:p.Pro23033Leu | |
| NM_133437.4:c.69299C>T (TTN) | NP_597681.4:p.Pro23100Leu | |
| NR_038271.1:n.446+20675G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+1950G>A (TTN-AS1) | ||
| XM_011511729.1:c.95015C>T (TTN) | XP_011510031.1:p.Pro31672Leu | |
| XM_011511730.1:c.68909C>T (TTN) | XP_011510032.1:p.Pro22970Leu | |
| XM_011511731.1:c.68768C>T (TTN) | XP_011510033.1:p.Pro22923Leu | |
| XM_017004819.1:c.94811C>T (TTN) | XP_016860308.1:p.Pro31604Leu | |
| XM_017004820.1:c.90209C>T (TTN) | XP_016860309.1:p.Pro30070Leu | |
| XM_017004821.1:c.90206C>T (TTN) | XP_016860310.1:p.Pro30069Leu | |
| XM_017004822.1:c.87248C>T (TTN) | XP_016860311.1:p.Pro29083Leu | |
| XM_017004823.1:c.68864C>T (TTN) | XP_016860312.1:p.Pro22955Leu | |
| XM_024453094.1:c.90359C>T (TTN) | XP_024308862.1:p.Pro30120Leu | |
| XM_024453095.1:c.90356C>T (TTN) | XP_024308863.1:p.Pro30119Leu | |
| XM_024453096.1:c.89789C>T (TTN) | XP_024308864.1:p.Pro29930Leu | |
| XM_024453097.1:c.87131C>T (TTN) | XP_024308865.1:p.Pro29044Leu | |
| XM_024453098.1:c.87050C>T (TTN) | XP_024308866.1:p.Pro29017Leu | |
| XM_024453099.1:c.68813C>T (TTN) | XP_024308867.1:p.Pro22938Leu | |
| XM_024453100.1:c.58667C>T (TTN) | XP_024308868.1:p.Pro19556Leu |