Linked Data
ClinVar Variation Id:
223287
dbSNP Id:
rs869312054
gnomAD v3:
2-178593566-A-G
gnomAD v4:
2-178593566-A-G
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593566A>G , CM000664.2:g.178593566A>G | GRCh38 |
| NC_000002.11:g.179458293A>G , CM000664.1:g.179458293A>G | GRCh37 |
| NC_000002.10:g.179166539A>G | NCBI36 |
| NG_011618.3:g.242237T>C , LRG_391:g.242237T>C | |
| NG_051363.1:g.75740A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51028+2T>C (TTN) | ENSP00000343764.6:n.51028+2T>C | |
| ENST00000342175.11:c.32113+2T>C (TTN) | ENSP00000340554.6:n.32113+2T>C | |
| ENST00000359218.10:c.31912+2T>C (TTN) | ENSP00000352154.5:n.31912+2T>C | |
| ENST00000342175.10:c.32113+2T>C (TTN) | ENSP00000340554.6:n.32113+2T>C | |
| ENST00000342992.10:c.51028+2T>C (TTN) | ENSP00000343764.6:n.51028+2T>C | |
| ENST00000359218.9:c.31912+2T>C (TTN) | ENSP00000352154.5:n.31912+2T>C | |
| ENST00000460472.6:c.31537+2T>C (TTN) | ENSP00000434586.1:n.31537+2T>C | |
| ENST00000589042.5:c.58732+2T>C (TTN) MANE Select | ENSP00000467141.1:n.58732+2T>C | |
| ENST00000591111.5:c.53809+2T>C (TTN) | ENSP00000465570.1:n.53809+2T>C | |
| ENST00000615779.4:c.53809+2T>C (TTN) | ENSP00000483597.1:n.53809+2T>C | |
| NM_001256850.1:c.53809+2T>C (TTN) | NP_001243779.1:n.53809+2T>C | |
| NM_001267550.2:c.58732+2T>C (TTN) MANE Select | NP_001254479.2:n.58732+2T>C | |
| NM_003319.4:c.31537+2T>C (TTN) | NP_003310.4:n.31537+2T>C | |
| NM_133378.4:c.51028+2T>C (TTN) | NP_596869.4:n.51028+2T>C | |
| NM_133432.3:c.31912+2T>C (TTN) | NP_597676.3:n.31912+2T>C | |
| NM_133437.4:c.32113+2T>C (TTN) | NP_597681.4:n.32113+2T>C | |
| NR_038271.1:n.597-4030A>G (TTN-AS1) | ||
| NR_038272.1:n.3364+2252A>G (TTN-AS1) | ||
| XM_011511729.1:c.57829+2T>C (TTN) | XP_011510031.1:n.57829+2T>C | |
| XM_011511730.1:c.31723+2T>C (TTN) | XP_011510032.1:n.31723+2T>C | |
| XM_011511731.1:c.31582+2T>C (TTN) | XP_011510033.1:n.31582+2T>C | |
| XM_017004819.1:c.57625+2T>C (TTN) | XP_016860308.1:n.57625+2T>C | |
| XM_017004820.1:c.53023+2T>C (TTN) | XP_016860309.1:n.53023+2T>C | |
| XM_017004821.1:c.53020+2T>C (TTN) | XP_016860310.1:n.53020+2T>C | |
| XM_017004822.1:c.50062+2T>C (TTN) | XP_016860311.1:n.50062+2T>C | |
| XM_017004823.1:c.31678+2T>C (TTN) | XP_016860312.1:n.31678+2T>C | |
| XM_024453094.1:c.53173+2T>C (TTN) | XP_024308862.1:n.53173+2T>C | |
| XM_024453095.1:c.53170+2T>C (TTN) | XP_024308863.1:n.53170+2T>C | |
| XM_024453096.1:c.52603+2T>C (TTN) | XP_024308864.1:n.52603+2T>C | |
| XM_024453097.1:c.49945+2T>C (TTN) | XP_024308865.1:n.49945+2T>C | |
| XM_024453098.1:c.49864+2T>C (TTN) | XP_024308866.1:n.49864+2T>C | |
| XM_024453099.1:c.31627+2T>C (TTN) | XP_024308867.1:n.31627+2T>C | |
| XM_024453100.1:c.21481+2T>C (TTN) | XP_024308868.1:n.21481+2T>C |