Linked Data
ClinVar Variation Id:
202948
dbSNP Id:
rs72648234
ExAC:
2:179419690 A / C
gnomAD v2:
2-179419690-A-C
gnomAD v3:
2-178554963-A-C
gnomAD v4:
2-178554963-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554963A>C , CM000664.2:g.178554963A>C | GRCh38 |
| NC_000002.11:g.179419690A>C , CM000664.1:g.179419690A>C | GRCh37 |
| NC_000002.10:g.179127936A>C | NCBI36 |
| NG_011618.3:g.280840T>G , LRG_391:g.280840T>G | |
| NG_051363.1:g.37137A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80792T>G (TTN) | ENSP00000343764.6:p.Leu26931Arg | |
| ENST00000342175.11:c.61877T>G (TTN) | ENSP00000340554.6:p.Leu20626Arg | |
| ENST00000359218.10:c.61676T>G (TTN) | ENSP00000352154.5:p.Leu20559Arg | |
| ENST00000342175.10:c.61877T>G (TTN) | ENSP00000340554.6:p.Leu20626Arg | |
| ENST00000342992.10:c.80792T>G (TTN) | ENSP00000343764.6:p.Leu26931Arg | |
| ENST00000359218.9:c.61676T>G (TTN) | ENSP00000352154.5:p.Leu20559Arg | |
| ENST00000460472.6:c.61301T>G (TTN) | ENSP00000434586.1:p.Leu20434Arg | |
| ENST00000589042.5:c.88496T>G (TTN) MANE Select | ENSP00000467141.1:p.Leu29499Arg | |
| ENST00000591111.5:c.83573T>G (TTN) | ENSP00000465570.1:p.Leu27858Arg | |
| ENST00000615779.4:c.83573T>G (TTN) | ENSP00000483597.1:p.Leu27858Arg | |
| NM_001256850.1:c.83573T>G (TTN) | NP_001243779.1:p.Leu27858Arg | |
| NM_001267550.2:c.88496T>G (TTN) MANE Select | NP_001254479.2:p.Leu29499Arg | |
| NM_003319.4:c.61301T>G (TTN) | NP_003310.4:p.Leu20434Arg | |
| NM_133378.4:c.80792T>G (TTN) | NP_596869.4:p.Leu26931Arg | |
| NM_133432.3:c.61676T>G (TTN) | NP_597676.3:p.Leu20559Arg | |
| NM_133437.4:c.61877T>G (TTN) | NP_597681.4:p.Leu20626Arg | |
| NR_038271.1:n.447-16337A>C (TTN-AS1) | ||
| NR_038272.1:n.2043+12602A>C (TTN-AS1) | ||
| XM_011511729.1:c.87593T>G (TTN) | XP_011510031.1:p.Leu29198Arg | |
| XM_011511730.1:c.61487T>G (TTN) | XP_011510032.1:p.Leu20496Arg | |
| XM_011511731.1:c.61346T>G (TTN) | XP_011510033.1:p.Leu20449Arg | |
| XM_017004819.1:c.87389T>G (TTN) | XP_016860308.1:p.Leu29130Arg | |
| XM_017004820.1:c.82787T>G (TTN) | XP_016860309.1:p.Leu27596Arg | |
| XM_017004821.1:c.82784T>G (TTN) | XP_016860310.1:p.Leu27595Arg | |
| XM_017004822.1:c.79826T>G (TTN) | XP_016860311.1:p.Leu26609Arg | |
| XM_017004823.1:c.61442T>G (TTN) | XP_016860312.1:p.Leu20481Arg | |
| XM_024453094.1:c.82937T>G (TTN) | XP_024308862.1:p.Leu27646Arg | |
| XM_024453095.1:c.82934T>G (TTN) | XP_024308863.1:p.Leu27645Arg | |
| XM_024453096.1:c.82367T>G (TTN) | XP_024308864.1:p.Leu27456Arg | |
| XM_024453097.1:c.79709T>G (TTN) | XP_024308865.1:p.Leu26570Arg | |
| XM_024453098.1:c.79628T>G (TTN) | XP_024308866.1:p.Leu26543Arg | |
| XM_024453099.1:c.61391T>G (TTN) | XP_024308867.1:p.Leu20464Arg | |
| XM_024453100.1:c.51245T>G (TTN) | XP_024308868.1:p.Leu17082Arg |