Linked Data
ClinVar Variation Id:
2154896
ClinVar RCV Id:
RCV003083741
dbSNP Id:
rs56026369
gnomAD v3:
2-178537050-A-G
gnomAD v4:
2-178537050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537050A>G , CM000664.2:g.178537050A>G | GRCh38 |
| NC_000002.11:g.179401777A>G , CM000664.1:g.179401777A>G | GRCh37 |
| NC_000002.10:g.179110023A>G | NCBI36 |
| NG_011618.3:g.298753T>C , LRG_391:g.298753T>C | |
| NG_051363.1:g.19224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92355T>C (TTN) | ENSP00000343764.6:p.Ile30785= | |
| ENST00000342175.11:c.73440T>C (TTN) | ENSP00000340554.6:p.Ile24480= | |
| ENST00000359218.10:c.73239T>C (TTN) | ENSP00000352154.5:p.Ile24413= | |
| ENST00000342175.10:c.73440T>C (TTN) | ENSP00000340554.6:p.Ile24480= | |
| ENST00000342992.10:c.92355T>C (TTN) | ENSP00000343764.6:p.Ile30785= | |
| ENST00000359218.9:c.73239T>C (TTN) | ENSP00000352154.5:p.Ile24413= | |
| ENST00000460472.6:c.72864T>C (TTN) | ENSP00000434586.1:p.Ile24288= | |
| ENST00000589042.5:c.100059T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile33353= | |
| ENST00000591111.5:c.95136T>C (TTN) | ENSP00000465570.1:p.Ile31712= | |
| ENST00000615779.4:c.95136T>C (TTN) | ENSP00000483597.1:p.Ile31712= | |
| NM_001256850.1:c.95136T>C (TTN) | NP_001243779.1:p.Ile31712= | |
| NM_001267550.2:c.100059T>C (TTN) MANE Select | NP_001254479.2:p.Ile33353= | |
| NM_003319.4:c.72864T>C (TTN) | NP_003310.4:p.Ile24288= | |
| NM_133378.4:c.92355T>C (TTN) | NP_596869.4:p.Ile30785= | |
| NM_133432.3:c.73239T>C (TTN) | NP_597676.3:p.Ile24413= | |
| NM_133437.4:c.73440T>C (TTN) | NP_597681.4:p.Ile24480= | |
| NR_038271.1:n.446+13414A>G (TTN-AS1) | ||
| NR_038272.1:n.317-311A>G (TTN-AS1) | ||
| XM_011511729.1:c.99156T>C (TTN) | XP_011510031.1:p.Ile33052= | |
| XM_011511730.1:c.73050T>C (TTN) | XP_011510032.1:p.Ile24350= | |
| XM_011511731.1:c.72909T>C (TTN) | XP_011510033.1:p.Ile24303= | |
| XM_017004819.1:c.98952T>C (TTN) | XP_016860308.1:p.Ile32984= | |
| XM_017004820.1:c.94350T>C (TTN) | XP_016860309.1:p.Ile31450= | |
| XM_017004821.1:c.94347T>C (TTN) | XP_016860310.1:p.Ile31449= | |
| XM_017004822.1:c.91389T>C (TTN) | XP_016860311.1:p.Ile30463= | |
| XM_017004823.1:c.73005T>C (TTN) | XP_016860312.1:p.Ile24335= | |
| XM_024453094.1:c.94500T>C (TTN) | XP_024308862.1:p.Ile31500= | |
| XM_024453095.1:c.94497T>C (TTN) | XP_024308863.1:p.Ile31499= | |
| XM_024453096.1:c.93930T>C (TTN) | XP_024308864.1:p.Ile31310= | |
| XM_024453097.1:c.91272T>C (TTN) | XP_024308865.1:p.Ile30424= | |
| XM_024453098.1:c.91191T>C (TTN) | XP_024308866.1:p.Ile30397= | |
| XM_024453099.1:c.72954T>C (TTN) | XP_024308867.1:p.Ile24318= | |
| XM_024453100.1:c.62808T>C (TTN) | XP_024308868.1:p.Ile20936= |