Linked Data
ClinVar Variation Id:
283720
dbSNP Id:
rs751009684
ExAC:
2:179449583 A / G
gnomAD v2:
2-179449583-A-G
gnomAD v3:
2-178584856-A-G
gnomAD v4:
2-178584856-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584856A>G , CM000664.2:g.178584856A>G | GRCh38 |
| NC_000002.11:g.179449583A>G , CM000664.1:g.179449583A>G | GRCh37 |
| NC_000002.10:g.179157829A>G | NCBI36 |
| NG_011618.3:g.250947T>C , LRG_391:g.250947T>C | |
| NG_051363.1:g.67030A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57081T>C (TTN) | ENSP00000343764.6:p.Tyr19027= | |
| ENST00000342175.11:c.38166T>C (TTN) | ENSP00000340554.6:p.Tyr12722= | |
| ENST00000359218.10:c.37965T>C (TTN) | ENSP00000352154.5:p.Tyr12655= | |
| ENST00000342175.10:c.38166T>C (TTN) | ENSP00000340554.6:p.Tyr12722= | |
| ENST00000342992.10:c.57081T>C (TTN) | ENSP00000343764.6:p.Tyr19027= | |
| ENST00000359218.9:c.37965T>C (TTN) | ENSP00000352154.5:p.Tyr12655= | |
| ENST00000460472.6:c.37590T>C (TTN) | ENSP00000434586.1:p.Tyr12530= | |
| ENST00000589042.5:c.64785T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr21595= | |
| ENST00000591111.5:c.59862T>C (TTN) | ENSP00000465570.1:p.Tyr19954= | |
| ENST00000615779.4:c.59862T>C (TTN) | ENSP00000483597.1:p.Tyr19954= | |
| NM_001256850.1:c.59862T>C (TTN) | NP_001243779.1:p.Tyr19954= | |
| NM_001267550.2:c.64785T>C (TTN) MANE Select | NP_001254479.2:p.Tyr21595= | |
| NM_003319.4:c.37590T>C (TTN) | NP_003310.4:p.Tyr12530= | |
| NM_133378.4:c.57081T>C (TTN) | NP_596869.4:p.Tyr19027= | |
| NM_133432.3:c.37965T>C (TTN) | NP_597676.3:p.Tyr12655= | |
| NM_133437.4:c.38166T>C (TTN) | NP_597681.4:p.Tyr12722= | |
| NR_038271.1:n.597-12740A>G (TTN-AS1) | ||
| NR_038272.1:n.3051A>G (TTN-AS1) | ||
| XM_011511729.1:c.63882T>C (TTN) | XP_011510031.1:p.Tyr21294= | |
| XM_011511730.1:c.37776T>C (TTN) | XP_011510032.1:p.Tyr12592= | |
| XM_011511731.1:c.37635T>C (TTN) | XP_011510033.1:p.Tyr12545= | |
| XM_017004819.1:c.63678T>C (TTN) | XP_016860308.1:p.Tyr21226= | |
| XM_017004820.1:c.59076T>C (TTN) | XP_016860309.1:p.Tyr19692= | |
| XM_017004821.1:c.59073T>C (TTN) | XP_016860310.1:p.Tyr19691= | |
| XM_017004822.1:c.56115T>C (TTN) | XP_016860311.1:p.Tyr18705= | |
| XM_017004823.1:c.37731T>C (TTN) | XP_016860312.1:p.Tyr12577= | |
| XM_024453094.1:c.59226T>C (TTN) | XP_024308862.1:p.Tyr19742= | |
| XM_024453095.1:c.59223T>C (TTN) | XP_024308863.1:p.Tyr19741= | |
| XM_024453096.1:c.58656T>C (TTN) | XP_024308864.1:p.Tyr19552= | |
| XM_024453097.1:c.55998T>C (TTN) | XP_024308865.1:p.Tyr18666= | |
| XM_024453098.1:c.55917T>C (TTN) | XP_024308866.1:p.Tyr18639= | |
| XM_024453099.1:c.37680T>C (TTN) | XP_024308867.1:p.Tyr12560= | |
| XM_024453100.1:c.27534T>C (TTN) | XP_024308868.1:p.Tyr9178= |