Linked Data
ClinVar Variation Id:
504537
dbSNP Id:
rs376942948
ExAC:
2:179413246 A / G
gnomAD v2:
2-179413246-A-G
gnomAD v3:
2-178548519-A-G
gnomAD v4:
2-178548519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548519A>G , CM000664.2:g.178548519A>G | GRCh38 |
| NC_000002.11:g.179413246A>G , CM000664.1:g.179413246A>G | GRCh37 |
| NC_000002.10:g.179121492A>G | NCBI36 |
| NG_011618.3:g.287284T>C , LRG_391:g.287284T>C | |
| NG_051363.1:g.30693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85403T>C (TTN) | ENSP00000343764.6:p.Met28468Thr | |
| ENST00000342175.11:c.66488T>C (TTN) | ENSP00000340554.6:p.Met22163Thr | |
| ENST00000359218.10:c.66287T>C (TTN) | ENSP00000352154.5:p.Met22096Thr | |
| ENST00000342175.10:c.66488T>C (TTN) | ENSP00000340554.6:p.Met22163Thr | |
| ENST00000342992.10:c.85403T>C (TTN) | ENSP00000343764.6:p.Met28468Thr | |
| ENST00000359218.9:c.66287T>C (TTN) | ENSP00000352154.5:p.Met22096Thr | |
| ENST00000460472.6:c.65912T>C (TTN) | ENSP00000434586.1:p.Met21971Thr | |
| ENST00000589042.5:c.93107T>C (TTN) MANE Select | ENSP00000467141.1:p.Met31036Thr | |
| ENST00000591111.5:c.88184T>C (TTN) | ENSP00000465570.1:p.Met29395Thr | |
| ENST00000615779.4:c.88184T>C (TTN) | ENSP00000483597.1:p.Met29395Thr | |
| NM_001256850.1:c.88184T>C (TTN) | NP_001243779.1:p.Met29395Thr | |
| NM_001267550.2:c.93107T>C (TTN) MANE Select | NP_001254479.2:p.Met31036Thr | |
| NM_003319.4:c.65912T>C (TTN) | NP_003310.4:p.Met21971Thr | |
| NM_133378.4:c.85403T>C (TTN) | NP_596869.4:p.Met28468Thr | |
| NM_133432.3:c.66287T>C (TTN) | NP_597676.3:p.Met22096Thr | |
| NM_133437.4:c.66488T>C (TTN) | NP_597681.4:p.Met22163Thr | |
| NR_038271.1:n.447-22781A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+6158A>G (TTN-AS1) | ||
| XM_011511729.1:c.92204T>C (TTN) | XP_011510031.1:p.Met30735Thr | |
| XM_011511730.1:c.66098T>C (TTN) | XP_011510032.1:p.Met22033Thr | |
| XM_011511731.1:c.65957T>C (TTN) | XP_011510033.1:p.Met21986Thr | |
| XM_017004819.1:c.92000T>C (TTN) | XP_016860308.1:p.Met30667Thr | |
| XM_017004820.1:c.87398T>C (TTN) | XP_016860309.1:p.Met29133Thr | |
| XM_017004821.1:c.87395T>C (TTN) | XP_016860310.1:p.Met29132Thr | |
| XM_017004822.1:c.84437T>C (TTN) | XP_016860311.1:p.Met28146Thr | |
| XM_017004823.1:c.66053T>C (TTN) | XP_016860312.1:p.Met22018Thr | |
| XM_024453094.1:c.87548T>C (TTN) | XP_024308862.1:p.Met29183Thr | |
| XM_024453095.1:c.87545T>C (TTN) | XP_024308863.1:p.Met29182Thr | |
| XM_024453096.1:c.86978T>C (TTN) | XP_024308864.1:p.Met28993Thr | |
| XM_024453097.1:c.84320T>C (TTN) | XP_024308865.1:p.Met28107Thr | |
| XM_024453098.1:c.84239T>C (TTN) | XP_024308866.1:p.Met28080Thr | |
| XM_024453099.1:c.66002T>C (TTN) | XP_024308867.1:p.Met22001Thr | |
| XM_024453100.1:c.55856T>C (TTN) | XP_024308868.1:p.Met18619Thr |