Linked Data
ClinVar Variation Id:
281313
dbSNP Id:
rs778995340
ExAC:
2:179462449 A / T
gnomAD v2:
2-179462449-A-T
gnomAD v4:
2-178597722-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597722A>T , CM000664.2:g.178597722A>T | GRCh38 |
| NC_000002.11:g.179462449A>T , CM000664.1:g.179462449A>T | GRCh37 |
| NC_000002.10:g.179170694A>T | NCBI36 |
| NG_011618.3:g.238081T>A , LRG_391:g.238081T>A | |
| NG_051363.1:g.79896A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49656T>A (TTN) | ENSP00000343764.6:p.Pro16552= | |
| ENST00000342175.11:c.30741T>A (TTN) | ENSP00000340554.6:p.Pro10247= | |
| ENST00000359218.10:c.30540T>A (TTN) | ENSP00000352154.5:p.Pro10180= | |
| ENST00000342175.10:c.30741T>A (TTN) | ENSP00000340554.6:p.Pro10247= | |
| ENST00000342992.10:c.49656T>A (TTN) | ENSP00000343764.6:p.Pro16552= | |
| ENST00000359218.9:c.30540T>A (TTN) | ENSP00000352154.5:p.Pro10180= | |
| ENST00000460472.6:c.30165T>A (TTN) | ENSP00000434586.1:p.Pro10055= | |
| ENST00000589042.5:c.57360T>A (TTN) MANE Select | ENSP00000467141.1:p.Pro19120= | |
| ENST00000591111.5:c.52437T>A (TTN) | ENSP00000465570.1:p.Pro17479= | |
| ENST00000615779.4:c.52437T>A (TTN) | ENSP00000483597.1:p.Pro17479= | |
| NM_001256850.1:c.52437T>A (TTN) | NP_001243779.1:p.Pro17479= | |
| NM_001267550.2:c.57360T>A (TTN) MANE Select | NP_001254479.2:p.Pro19120= | |
| NM_003319.4:c.30165T>A (TTN) | NP_003310.4:p.Pro10055= | |
| NM_133378.4:c.49656T>A (TTN) | NP_596869.4:p.Pro16552= | |
| NM_133432.3:c.30540T>A (TTN) | NP_597676.3:p.Pro10180= | |
| NM_133437.4:c.30741T>A (TTN) | NP_597681.4:p.Pro10247= | |
| NR_038271.1:n.682+41A>T (TTN-AS1) | ||
| NR_038272.1:n.3450+41A>T (TTN-AS1) | ||
| XM_011511729.1:c.56457T>A (TTN) | XP_011510031.1:p.Pro18819= | |
| XM_011511730.1:c.30351T>A (TTN) | XP_011510032.1:p.Pro10117= | |
| XM_011511731.1:c.30210T>A (TTN) | XP_011510033.1:p.Pro10070= | |
| XM_017004819.1:c.56253T>A (TTN) | XP_016860308.1:p.Pro18751= | |
| XM_017004820.1:c.51651T>A (TTN) | XP_016860309.1:p.Pro17217= | |
| XM_017004821.1:c.51648T>A (TTN) | XP_016860310.1:p.Pro17216= | |
| XM_017004822.1:c.48690T>A (TTN) | XP_016860311.1:p.Pro16230= | |
| XM_017004823.1:c.30306T>A (TTN) | XP_016860312.1:p.Pro10102= | |
| XM_024453094.1:c.51801T>A (TTN) | XP_024308862.1:p.Pro17267= | |
| XM_024453095.1:c.51798T>A (TTN) | XP_024308863.1:p.Pro17266= | |
| XM_024453096.1:c.51231T>A (TTN) | XP_024308864.1:p.Pro17077= | |
| XM_024453097.1:c.48573T>A (TTN) | XP_024308865.1:p.Pro16191= | |
| XM_024453098.1:c.48492T>A (TTN) | XP_024308866.1:p.Pro16164= | |
| XM_024453099.1:c.30255T>A (TTN) | XP_024308867.1:p.Pro10085= | |
| XM_024453100.1:c.20109T>A (TTN) | XP_024308868.1:p.Pro6703= |