Linked Data
dbSNP Id:
rs577017863
ExAC:
2:179396808 G / A
gnomAD v2:
2-179396808-G-A
gnomAD v3:
2-178532081-G-A
gnomAD v4:
2-178532081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532081G>A , CM000664.2:g.178532081G>A | GRCh38 |
| NC_000002.11:g.179396808G>A , CM000664.1:g.179396808G>A | GRCh37 |
| NC_000002.10:g.179105054G>A | NCBI36 |
| NG_011618.3:g.303722C>T , LRG_391:g.303722C>T | |
| NG_051363.1:g.14255G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96830C>T (TTN) | ENSP00000343764.6:p.Pro32277Leu | |
| ENST00000342175.11:c.77915C>T (TTN) | ENSP00000340554.6:p.Pro25972Leu | |
| ENST00000359218.10:c.77714C>T (TTN) | ENSP00000352154.5:p.Pro25905Leu | |
| ENST00000342175.10:c.77915C>T (TTN) | ENSP00000340554.6:p.Pro25972Leu | |
| ENST00000342992.10:c.96830C>T (TTN) | ENSP00000343764.6:p.Pro32277Leu | |
| ENST00000359218.9:c.77714C>T (TTN) | ENSP00000352154.5:p.Pro25905Leu | |
| ENST00000460472.6:c.77339C>T (TTN) | ENSP00000434586.1:p.Pro25780Leu | |
| ENST00000589042.5:c.104534C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro34845Leu | |
| ENST00000591111.5:c.99611C>T (TTN) | ENSP00000465570.1:p.Pro33204Leu | |
| ENST00000615779.4:c.99611C>T (TTN) | ENSP00000483597.1:p.Pro33204Leu | |
| NM_001256850.1:c.99611C>T (TTN) | NP_001243779.1:p.Pro33204Leu | |
| NM_001267550.2:c.104534C>T (TTN) MANE Select | NP_001254479.2:p.Pro34845Leu | |
| NM_003319.4:c.77339C>T (TTN) | NP_003310.4:p.Pro25780Leu | |
| NM_133378.4:c.96830C>T (TTN) | NP_596869.4:p.Pro32277Leu | |
| NM_133432.3:c.77714C>T (TTN) | NP_597676.3:p.Pro25905Leu | |
| NM_133437.4:c.77915C>T (TTN) | NP_597681.4:p.Pro25972Leu | |
| NR_038271.1:n.446+8445G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3651G>A (TTN-AS1) | ||
| XM_011511729.1:c.103631C>T (TTN) | XP_011510031.1:p.Pro34544Leu | |
| XM_011511730.1:c.77525C>T (TTN) | XP_011510032.1:p.Pro25842Leu | |
| XM_011511731.1:c.77384C>T (TTN) | XP_011510033.1:p.Pro25795Leu | |
| XM_017004819.1:c.103427C>T (TTN) | XP_016860308.1:p.Pro34476Leu | |
| XM_017004820.1:c.98825C>T (TTN) | XP_016860309.1:p.Pro32942Leu | |
| XM_017004821.1:c.98822C>T (TTN) | XP_016860310.1:p.Pro32941Leu | |
| XM_017004822.1:c.95864C>T (TTN) | XP_016860311.1:p.Pro31955Leu | |
| XM_017004823.1:c.77480C>T (TTN) | XP_016860312.1:p.Pro25827Leu | |
| XM_024453094.1:c.98975C>T (TTN) | XP_024308862.1:p.Pro32992Leu | |
| XM_024453095.1:c.98972C>T (TTN) | XP_024308863.1:p.Pro32991Leu | |
| XM_024453096.1:c.98405C>T (TTN) | XP_024308864.1:p.Pro32802Leu | |
| XM_024453097.1:c.95747C>T (TTN) | XP_024308865.1:p.Pro31916Leu | |
| XM_024453098.1:c.95666C>T (TTN) | XP_024308866.1:p.Pro31889Leu | |
| XM_024453099.1:c.77429C>T (TTN) | XP_024308867.1:p.Pro25810Leu | |
| XM_024453100.1:c.67283C>T (TTN) | XP_024308868.1:p.Pro22428Leu |