Linked Data
ClinVar Variation Id:
283654
dbSNP Id:
rs757402291
ExAC:
2:179404641 C / T
gnomAD v2:
2-179404641-C-T
gnomAD v4:
2-178539914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539914C>T , CM000664.2:g.178539914C>T | GRCh38 |
| NC_000002.11:g.179404641C>T , CM000664.1:g.179404641C>T | GRCh37 |
| NC_000002.10:g.179112887C>T | NCBI36 |
| NG_011618.3:g.295889G>A , LRG_391:g.295889G>A | |
| NG_051363.1:g.22088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90447G>A (TTN) | ENSP00000343764.6:p.Arg30149= | |
| ENST00000342175.11:c.71532G>A (TTN) | ENSP00000340554.6:p.Arg23844= | |
| ENST00000359218.10:c.71331G>A (TTN) | ENSP00000352154.5:p.Arg23777= | |
| ENST00000342175.10:c.71532G>A (TTN) | ENSP00000340554.6:p.Arg23844= | |
| ENST00000342992.10:c.90447G>A (TTN) | ENSP00000343764.6:p.Arg30149= | |
| ENST00000359218.9:c.71331G>A (TTN) | ENSP00000352154.5:p.Arg23777= | |
| ENST00000460472.6:c.70956G>A (TTN) | ENSP00000434586.1:p.Arg23652= | |
| ENST00000589042.5:c.98151G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32717= | |
| ENST00000591111.5:c.93228G>A (TTN) | ENSP00000465570.1:p.Arg31076= | |
| ENST00000615779.4:c.93228G>A (TTN) | ENSP00000483597.1:p.Arg31076= | |
| NM_001256850.1:c.93228G>A (TTN) | NP_001243779.1:p.Arg31076= | |
| NM_001267550.2:c.98151G>A (TTN) MANE Select | NP_001254479.2:p.Arg32717= | |
| NM_003319.4:c.70956G>A (TTN) | NP_003310.4:p.Arg23652= | |
| NM_133378.4:c.90447G>A (TTN) | NP_596869.4:p.Arg30149= | |
| NM_133432.3:c.71331G>A (TTN) | NP_597676.3:p.Arg23777= | |
| NM_133437.4:c.71532G>A (TTN) | NP_597681.4:p.Arg23844= | |
| NR_038271.1:n.446+16278C>T (TTN-AS1) | ||
| NR_038272.1:n.1840+24C>T (TTN-AS1) | ||
| XM_011511729.1:c.97248G>A (TTN) | XP_011510031.1:p.Arg32416= | |
| XM_011511730.1:c.71142G>A (TTN) | XP_011510032.1:p.Arg23714= | |
| XM_011511731.1:c.71001G>A (TTN) | XP_011510033.1:p.Arg23667= | |
| XM_017004819.1:c.97044G>A (TTN) | XP_016860308.1:p.Arg32348= | |
| XM_017004820.1:c.92442G>A (TTN) | XP_016860309.1:p.Arg30814= | |
| XM_017004821.1:c.92439G>A (TTN) | XP_016860310.1:p.Arg30813= | |
| XM_017004822.1:c.89481G>A (TTN) | XP_016860311.1:p.Arg29827= | |
| XM_017004823.1:c.71097G>A (TTN) | XP_016860312.1:p.Arg23699= | |
| XM_024453094.1:c.92592G>A (TTN) | XP_024308862.1:p.Arg30864= | |
| XM_024453095.1:c.92589G>A (TTN) | XP_024308863.1:p.Arg30863= | |
| XM_024453096.1:c.92022G>A (TTN) | XP_024308864.1:p.Arg30674= | |
| XM_024453097.1:c.89364G>A (TTN) | XP_024308865.1:p.Arg29788= | |
| XM_024453098.1:c.89283G>A (TTN) | XP_024308866.1:p.Arg29761= | |
| XM_024453099.1:c.71046G>A (TTN) | XP_024308867.1:p.Arg23682= | |
| XM_024453100.1:c.60900G>A (TTN) | XP_024308868.1:p.Arg20300= |