Linked Data
dbSNP Id:
rs780689608
ExAC:
2:179416560 A / G
gnomAD v2:
2-179416560-A-G
gnomAD v4:
2-178551833-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551833A>G , CM000664.2:g.178551833A>G | GRCh38 |
| NC_000002.11:g.179416560A>G , CM000664.1:g.179416560A>G | GRCh37 |
| NC_000002.10:g.179124806A>G | NCBI36 |
| NG_011618.3:g.283970T>C , LRG_391:g.283970T>C | |
| NG_051363.1:g.34007A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.83363T>C (TTN) | ENSP00000343764.6:p.Val27788Ala | |
| ENST00000342175.11:c.64448T>C (TTN) | ENSP00000340554.6:p.Val21483Ala | |
| ENST00000359218.10:c.64247T>C (TTN) | ENSP00000352154.5:p.Val21416Ala | |
| ENST00000342175.10:c.64448T>C (TTN) | ENSP00000340554.6:p.Val21483Ala | |
| ENST00000342992.10:c.83363T>C (TTN) | ENSP00000343764.6:p.Val27788Ala | |
| ENST00000359218.9:c.64247T>C (TTN) | ENSP00000352154.5:p.Val21416Ala | |
| ENST00000460472.6:c.63872T>C (TTN) | ENSP00000434586.1:p.Val21291Ala | |
| ENST00000589042.5:c.91067T>C (TTN) MANE Select | ENSP00000467141.1:p.Val30356Ala | |
| ENST00000591111.5:c.86144T>C (TTN) | ENSP00000465570.1:p.Val28715Ala | |
| ENST00000615779.4:c.86144T>C (TTN) | ENSP00000483597.1:p.Val28715Ala | |
| NM_001256850.1:c.86144T>C (TTN) | NP_001243779.1:p.Val28715Ala | |
| NM_001267550.2:c.91067T>C (TTN) MANE Select | NP_001254479.2:p.Val30356Ala | |
| NM_003319.4:c.63872T>C (TTN) | NP_003310.4:p.Val21291Ala | |
| NM_133378.4:c.83363T>C (TTN) | NP_596869.4:p.Val27788Ala | |
| NM_133432.3:c.64247T>C (TTN) | NP_597676.3:p.Val21416Ala | |
| NM_133437.4:c.64448T>C (TTN) | NP_597681.4:p.Val21483Ala | |
| NR_038271.1:n.447-19467A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+9472A>G (TTN-AS1) | ||
| XM_011511729.1:c.90164T>C (TTN) | XP_011510031.1:p.Val30055Ala | |
| XM_011511730.1:c.64058T>C (TTN) | XP_011510032.1:p.Val21353Ala | |
| XM_011511731.1:c.63917T>C (TTN) | XP_011510033.1:p.Val21306Ala | |
| XM_017004819.1:c.89960T>C (TTN) | XP_016860308.1:p.Val29987Ala | |
| XM_017004820.1:c.85358T>C (TTN) | XP_016860309.1:p.Val28453Ala | |
| XM_017004821.1:c.85355T>C (TTN) | XP_016860310.1:p.Val28452Ala | |
| XM_017004822.1:c.82397T>C (TTN) | XP_016860311.1:p.Val27466Ala | |
| XM_017004823.1:c.64013T>C (TTN) | XP_016860312.1:p.Val21338Ala | |
| XM_024453094.1:c.85508T>C (TTN) | XP_024308862.1:p.Val28503Ala | |
| XM_024453095.1:c.85505T>C (TTN) | XP_024308863.1:p.Val28502Ala | |
| XM_024453096.1:c.84938T>C (TTN) | XP_024308864.1:p.Val28313Ala | |
| XM_024453097.1:c.82280T>C (TTN) | XP_024308865.1:p.Val27427Ala | |
| XM_024453098.1:c.82199T>C (TTN) | XP_024308866.1:p.Val27400Ala | |
| XM_024453099.1:c.63962T>C (TTN) | XP_024308867.1:p.Val21321Ala | |
| XM_024453100.1:c.53816T>C (TTN) | XP_024308868.1:p.Val17939Ala |