Linked Data
ClinVar Variation Id:
506670
dbSNP Id:
rs578085621
ExAC:
2:179449648 C / T
gnomAD v2:
2-179449648-C-T
gnomAD v3:
2-178584921-C-T
gnomAD v4:
2-178584921-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584921C>T , CM000664.2:g.178584921C>T | GRCh38 |
| NC_000002.11:g.179449648C>T , CM000664.1:g.179449648C>T | GRCh37 |
| NC_000002.10:g.179157894C>T | NCBI36 |
| NG_011618.3:g.250882G>A , LRG_391:g.250882G>A | |
| NG_051363.1:g.67095C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.57016G>A (TTN) | ENSP00000343764.6:p.Ala19006Thr | |
| ENST00000342175.11:c.38101G>A (TTN) | ENSP00000340554.6:p.Ala12701Thr | |
| ENST00000359218.10:c.37900G>A (TTN) | ENSP00000352154.5:p.Ala12634Thr | |
| ENST00000342175.10:c.38101G>A (TTN) | ENSP00000340554.6:p.Ala12701Thr | |
| ENST00000342992.10:c.57016G>A (TTN) | ENSP00000343764.6:p.Ala19006Thr | |
| ENST00000359218.9:c.37900G>A (TTN) | ENSP00000352154.5:p.Ala12634Thr | |
| ENST00000460472.6:c.37525G>A (TTN) | ENSP00000434586.1:p.Ala12509Thr | |
| ENST00000589042.5:c.64720G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala21574Thr | |
| ENST00000591111.5:c.59797G>A (TTN) | ENSP00000465570.1:p.Ala19933Thr | |
| ENST00000615779.4:c.59797G>A (TTN) | ENSP00000483597.1:p.Ala19933Thr | |
| NM_001256850.1:c.59797G>A (TTN) | NP_001243779.1:p.Ala19933Thr | |
| NM_001267550.2:c.64720G>A (TTN) MANE Select | NP_001254479.2:p.Ala21574Thr | |
| NM_003319.4:c.37525G>A (TTN) | NP_003310.4:p.Ala12509Thr | |
| NM_133378.4:c.57016G>A (TTN) | NP_596869.4:p.Ala19006Thr | |
| NM_133432.3:c.37900G>A (TTN) | NP_597676.3:p.Ala12634Thr | |
| NM_133437.4:c.38101G>A (TTN) | NP_597681.4:p.Ala12701Thr | |
| NR_038271.1:n.597-12675C>T (TTN-AS1) | ||
| NR_038272.1:n.3116C>T (TTN-AS1) | ||
| XM_011511729.1:c.63817G>A (TTN) | XP_011510031.1:p.Ala21273Thr | |
| XM_011511730.1:c.37711G>A (TTN) | XP_011510032.1:p.Ala12571Thr | |
| XM_011511731.1:c.37570G>A (TTN) | XP_011510033.1:p.Ala12524Thr | |
| XM_017004819.1:c.63613G>A (TTN) | XP_016860308.1:p.Ala21205Thr | |
| XM_017004820.1:c.59011G>A (TTN) | XP_016860309.1:p.Ala19671Thr | |
| XM_017004821.1:c.59008G>A (TTN) | XP_016860310.1:p.Ala19670Thr | |
| XM_017004822.1:c.56050G>A (TTN) | XP_016860311.1:p.Ala18684Thr | |
| XM_017004823.1:c.37666G>A (TTN) | XP_016860312.1:p.Ala12556Thr | |
| XM_024453094.1:c.59161G>A (TTN) | XP_024308862.1:p.Ala19721Thr | |
| XM_024453095.1:c.59158G>A (TTN) | XP_024308863.1:p.Ala19720Thr | |
| XM_024453096.1:c.58591G>A (TTN) | XP_024308864.1:p.Ala19531Thr | |
| XM_024453097.1:c.55933G>A (TTN) | XP_024308865.1:p.Ala18645Thr | |
| XM_024453098.1:c.55852G>A (TTN) | XP_024308866.1:p.Ala18618Thr | |
| XM_024453099.1:c.37615G>A (TTN) | XP_024308867.1:p.Ala12539Thr | |
| XM_024453100.1:c.27469G>A (TTN) | XP_024308868.1:p.Ala9157Thr |