Linked Data
ClinVar Variation Id:
195713
dbSNP Id:
rs371031259
ExAC:
2:179472954 A / G
gnomAD v2:
2-179472954-A-G
gnomAD v3:
2-178608227-A-G
gnomAD v4:
2-178608227-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608227A>G , CM000664.2:g.178608227A>G | GRCh38 |
| NC_000002.11:g.179472954A>G , CM000664.1:g.179472954A>G | GRCh37 |
| NC_000002.10:g.179181199A>G | NCBI36 |
| NG_011618.3:g.227576T>C , LRG_391:g.227576T>C | |
| NG_051363.1:g.90401A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44952T>C (TTN) | ENSP00000343764.6:p.Pro14984= | |
| ENST00000342175.11:c.26037T>C (TTN) | ENSP00000340554.6:p.Pro8679= | |
| ENST00000359218.10:c.25836T>C (TTN) | ENSP00000352154.5:p.Pro8612= | |
| ENST00000342175.10:c.26037T>C (TTN) | ENSP00000340554.6:p.Pro8679= | |
| ENST00000342992.10:c.44952T>C (TTN) | ENSP00000343764.6:p.Pro14984= | |
| ENST00000359218.9:c.25836T>C (TTN) | ENSP00000352154.5:p.Pro8612= | |
| ENST00000460472.6:c.25461T>C (TTN) | ENSP00000434586.1:p.Pro8487= | |
| ENST00000589042.5:c.52656T>C (TTN) MANE Select | ENSP00000467141.1:p.Pro17552= | |
| ENST00000591111.5:c.47733T>C (TTN) | ENSP00000465570.1:p.Pro15911= | |
| ENST00000615779.4:c.47733T>C (TTN) | ENSP00000483597.1:p.Pro15911= | |
| NM_001256850.1:c.47733T>C (TTN) | NP_001243779.1:p.Pro15911= | |
| NM_001267550.2:c.52656T>C (TTN) MANE Select | NP_001254479.2:p.Pro17552= | |
| NM_003319.4:c.25461T>C (TTN) | NP_003310.4:p.Pro8487= | |
| NM_133378.4:c.44952T>C (TTN) | NP_596869.4:p.Pro14984= | |
| NM_133432.3:c.25836T>C (TTN) | NP_597676.3:p.Pro8612= | |
| NM_133437.4:c.26037T>C (TTN) | NP_597681.4:p.Pro8679= | |
| NR_038271.1:n.743A>G (TTN-AS1) | ||
| XM_011511729.1:c.51753T>C (TTN) | XP_011510031.1:p.Pro17251= | |
| XM_011511730.1:c.25647T>C (TTN) | XP_011510032.1:p.Pro8549= | |
| XM_011511731.1:c.25506T>C (TTN) | XP_011510033.1:p.Pro8502= | |
| XM_017004819.1:c.51549T>C (TTN) | XP_016860308.1:p.Pro17183= | |
| XM_017004820.1:c.46947T>C (TTN) | XP_016860309.1:p.Pro15649= | |
| XM_017004821.1:c.46944T>C (TTN) | XP_016860310.1:p.Pro15648= | |
| XM_017004822.1:c.43986T>C (TTN) | XP_016860311.1:p.Pro14662= | |
| XM_017004823.1:c.25602T>C (TTN) | XP_016860312.1:p.Pro8534= | |
| XM_024453094.1:c.47097T>C (TTN) | XP_024308862.1:p.Pro15699= | |
| XM_024453095.1:c.47094T>C (TTN) | XP_024308863.1:p.Pro15698= | |
| XM_024453096.1:c.46527T>C (TTN) | XP_024308864.1:p.Pro15509= | |
| XM_024453097.1:c.43869T>C (TTN) | XP_024308865.1:p.Pro14623= | |
| XM_024453098.1:c.43788T>C (TTN) | XP_024308866.1:p.Pro14596= | |
| XM_024453099.1:c.25551T>C (TTN) | XP_024308867.1:p.Pro8517= | |
| XM_024453100.1:c.15405T>C (TTN) | XP_024308868.1:p.Pro5135= |