Linked Data
ClinVar Variation Id:
466709
dbSNP Id:
rs748516187
gnomAD v2:
2-179398127-G-A
gnomAD v3:
2-178533400-G-A
gnomAD v4:
2-178533400-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533400G>A , CM000664.2:g.178533400G>A | GRCh38 |
| NC_000002.11:g.179398127G>A , CM000664.1:g.179398127G>A | GRCh37 |
| NC_000002.10:g.179106373G>A | NCBI36 |
| NG_011618.3:g.302403C>T , LRG_391:g.302403C>T | |
| NG_051363.1:g.15574G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95511C>T (TTN) | ENSP00000343764.6:p.Leu31837= | |
| ENST00000342175.11:c.76596C>T (TTN) | ENSP00000340554.6:p.Leu25532= | |
| ENST00000359218.10:c.76395C>T (TTN) | ENSP00000352154.5:p.Leu25465= | |
| ENST00000342175.10:c.76596C>T (TTN) | ENSP00000340554.6:p.Leu25532= | |
| ENST00000342992.10:c.95511C>T (TTN) | ENSP00000343764.6:p.Leu31837= | |
| ENST00000359218.9:c.76395C>T (TTN) | ENSP00000352154.5:p.Leu25465= | |
| ENST00000460472.6:c.76020C>T (TTN) | ENSP00000434586.1:p.Leu25340= | |
| ENST00000589042.5:c.103215C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu34405= | |
| ENST00000591111.5:c.98292C>T (TTN) | ENSP00000465570.1:p.Leu32764= | |
| ENST00000615779.4:c.98292C>T (TTN) | ENSP00000483597.1:p.Leu32764= | |
| NM_001256850.1:c.98292C>T (TTN) | NP_001243779.1:p.Leu32764= | |
| NM_001267550.2:c.103215C>T (TTN) MANE Select | NP_001254479.2:p.Leu34405= | |
| NM_003319.4:c.76020C>T (TTN) | NP_003310.4:p.Leu25340= | |
| NM_133378.4:c.95511C>T (TTN) | NP_596869.4:p.Leu31837= | |
| NM_133432.3:c.76395C>T (TTN) | NP_597676.3:p.Leu25465= | |
| NM_133437.4:c.76596C>T (TTN) | NP_597681.4:p.Leu25532= | |
| NR_038271.1:n.446+9764G>A (TTN-AS1) | ||
| NR_038272.1:n.220-2332G>A (TTN-AS1) | ||
| XM_011511729.1:c.102312C>T (TTN) | XP_011510031.1:p.Leu34104= | |
| XM_011511730.1:c.76206C>T (TTN) | XP_011510032.1:p.Leu25402= | |
| XM_011511731.1:c.76065C>T (TTN) | XP_011510033.1:p.Leu25355= | |
| XM_017004819.1:c.102108C>T (TTN) | XP_016860308.1:p.Leu34036= | |
| XM_017004820.1:c.97506C>T (TTN) | XP_016860309.1:p.Leu32502= | |
| XM_017004821.1:c.97503C>T (TTN) | XP_016860310.1:p.Leu32501= | |
| XM_017004822.1:c.94545C>T (TTN) | XP_016860311.1:p.Leu31515= | |
| XM_017004823.1:c.76161C>T (TTN) | XP_016860312.1:p.Leu25387= | |
| XM_024453094.1:c.97656C>T (TTN) | XP_024308862.1:p.Leu32552= | |
| XM_024453095.1:c.97653C>T (TTN) | XP_024308863.1:p.Leu32551= | |
| XM_024453096.1:c.97086C>T (TTN) | XP_024308864.1:p.Leu32362= | |
| XM_024453097.1:c.94428C>T (TTN) | XP_024308865.1:p.Leu31476= | |
| XM_024453098.1:c.94347C>T (TTN) | XP_024308866.1:p.Leu31449= | |
| XM_024453099.1:c.76110C>T (TTN) | XP_024308867.1:p.Leu25370= | |
| XM_024453100.1:c.65964C>T (TTN) | XP_024308868.1:p.Leu21988= |