Linked Data
ClinVar Variation Id:
404901
dbSNP Id:
rs529839486
ExAC:
2:179431774 A / G
gnomAD v2:
2-179431774-A-G
gnomAD v3:
2-178567047-A-G
gnomAD v4:
2-178567047-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567047A>G , CM000664.2:g.178567047A>G | GRCh38 |
| NC_000002.11:g.179431774A>G , CM000664.1:g.179431774A>G | GRCh37 |
| NC_000002.10:g.179140020A>G | NCBI36 |
| NG_011618.3:g.268756T>C , LRG_391:g.268756T>C | |
| NG_051363.1:g.49221A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71381T>C (TTN) | ENSP00000343764.6:p.Met23794Thr | |
| ENST00000342175.11:c.52466T>C (TTN) | ENSP00000340554.6:p.Met17489Thr | |
| ENST00000359218.10:c.52265T>C (TTN) | ENSP00000352154.5:p.Met17422Thr | |
| ENST00000342175.10:c.52466T>C (TTN) | ENSP00000340554.6:p.Met17489Thr | |
| ENST00000342992.10:c.71381T>C (TTN) | ENSP00000343764.6:p.Met23794Thr | |
| ENST00000359218.9:c.52265T>C (TTN) | ENSP00000352154.5:p.Met17422Thr | |
| ENST00000460472.6:c.51890T>C (TTN) | ENSP00000434586.1:p.Met17297Thr | |
| ENST00000589042.5:c.79085T>C (TTN) MANE Select | ENSP00000467141.1:p.Met26362Thr | |
| ENST00000591111.5:c.74162T>C (TTN) | ENSP00000465570.1:p.Met24721Thr | |
| ENST00000615779.4:c.74162T>C (TTN) | ENSP00000483597.1:p.Met24721Thr | |
| NM_001256850.1:c.74162T>C (TTN) | NP_001243779.1:p.Met24721Thr | |
| NM_001267550.2:c.79085T>C (TTN) MANE Select | NP_001254479.2:p.Met26362Thr | |
| NM_003319.4:c.51890T>C (TTN) | NP_003310.4:p.Met17297Thr | |
| NM_133378.4:c.71381T>C (TTN) | NP_596869.4:p.Met23794Thr | |
| NM_133432.3:c.52265T>C (TTN) | NP_597676.3:p.Met17422Thr | |
| NM_133437.4:c.52466T>C (TTN) | NP_597681.4:p.Met17489Thr | |
| NR_038271.1:n.447-4253A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-15525A>G (TTN-AS1) | ||
| XM_011511729.1:c.78182T>C (TTN) | XP_011510031.1:p.Met26061Thr | |
| XM_011511730.1:c.52076T>C (TTN) | XP_011510032.1:p.Met17359Thr | |
| XM_011511731.1:c.51935T>C (TTN) | XP_011510033.1:p.Met17312Thr | |
| XM_017004819.1:c.77978T>C (TTN) | XP_016860308.1:p.Met25993Thr | |
| XM_017004820.1:c.73376T>C (TTN) | XP_016860309.1:p.Met24459Thr | |
| XM_017004821.1:c.73373T>C (TTN) | XP_016860310.1:p.Met24458Thr | |
| XM_017004822.1:c.70415T>C (TTN) | XP_016860311.1:p.Met23472Thr | |
| XM_017004823.1:c.52031T>C (TTN) | XP_016860312.1:p.Met17344Thr | |
| XM_024453094.1:c.73526T>C (TTN) | XP_024308862.1:p.Met24509Thr | |
| XM_024453095.1:c.73523T>C (TTN) | XP_024308863.1:p.Met24508Thr | |
| XM_024453096.1:c.72956T>C (TTN) | XP_024308864.1:p.Met24319Thr | |
| XM_024453097.1:c.70298T>C (TTN) | XP_024308865.1:p.Met23433Thr | |
| XM_024453098.1:c.70217T>C (TTN) | XP_024308866.1:p.Met23406Thr | |
| XM_024453099.1:c.51980T>C (TTN) | XP_024308867.1:p.Met17327Thr | |
| XM_024453100.1:c.41834T>C (TTN) | XP_024308868.1:p.Met13945Thr |