Linked Data
ClinVar Variation Id:
488181
dbSNP Id:
rs1292930837
gnomAD v3:
2-178609798-C-T
gnomAD v4:
2-178609798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609798C>T , CM000664.2:g.178609798C>T | GRCh38 |
| NC_000002.11:g.179474525C>T , CM000664.1:g.179474525C>T | GRCh37 |
| NC_000002.10:g.179182770C>T | NCBI36 |
| NG_011618.3:g.226005G>A , LRG_391:g.226005G>A | |
| NG_051363.1:g.91972C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.43921G>A (TTN) | ENSP00000343764.6:p.Ala14641Thr | |
| ENST00000342175.11:c.25006G>A (TTN) | ENSP00000340554.6:p.Ala8336Thr | |
| ENST00000359218.10:c.24805G>A (TTN) | ENSP00000352154.5:p.Ala8269Thr | |
| ENST00000342175.10:c.25006G>A (TTN) | ENSP00000340554.6:p.Ala8336Thr | |
| ENST00000342992.10:c.43921G>A (TTN) | ENSP00000343764.6:p.Ala14641Thr | |
| ENST00000359218.9:c.24805G>A (TTN) | ENSP00000352154.5:p.Ala8269Thr | |
| ENST00000460472.6:c.24430G>A (TTN) | ENSP00000434586.1:p.Ala8144Thr | |
| ENST00000589042.5:c.51625G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala17209Thr | |
| ENST00000591111.5:c.46702G>A (TTN) | ENSP00000465570.1:p.Ala15568Thr | |
| ENST00000615779.4:c.46702G>A (TTN) | ENSP00000483597.1:p.Ala15568Thr | |
| NM_001256850.1:c.46702G>A (TTN) | NP_001243779.1:p.Ala15568Thr | |
| NM_001267550.2:c.51625G>A (TTN) MANE Select | NP_001254479.2:p.Ala17209Thr | |
| NM_003319.4:c.24430G>A (TTN) | NP_003310.4:p.Ala8144Thr | |
| NM_133378.4:c.43921G>A (TTN) | NP_596869.4:p.Ala14641Thr | |
| NM_133432.3:c.24805G>A (TTN) | NP_597676.3:p.Ala8269Thr | |
| NM_133437.4:c.25006G>A (TTN) | NP_597681.4:p.Ala8336Thr | |
| NR_038271.1:n.782+1532C>T (TTN-AS1) | ||
| XM_011511729.1:c.50722G>A (TTN) | XP_011510031.1:p.Ala16908Thr | |
| XM_011511730.1:c.24616G>A (TTN) | XP_011510032.1:p.Ala8206Thr | |
| XM_011511731.1:c.24475G>A (TTN) | XP_011510033.1:p.Ala8159Thr | |
| XM_017004819.1:c.50518G>A (TTN) | XP_016860308.1:p.Ala16840Thr | |
| XM_017004820.1:c.45916G>A (TTN) | XP_016860309.1:p.Ala15306Thr | |
| XM_017004821.1:c.45913G>A (TTN) | XP_016860310.1:p.Ala15305Thr | |
| XM_017004822.1:c.42955G>A (TTN) | XP_016860311.1:p.Ala14319Thr | |
| XM_017004823.1:c.24571G>A (TTN) | XP_016860312.1:p.Ala8191Thr | |
| XM_024453094.1:c.46066G>A (TTN) | XP_024308862.1:p.Ala15356Thr | |
| XM_024453095.1:c.46063G>A (TTN) | XP_024308863.1:p.Ala15355Thr | |
| XM_024453096.1:c.45496G>A (TTN) | XP_024308864.1:p.Ala15166Thr | |
| XM_024453097.1:c.42838G>A (TTN) | XP_024308865.1:p.Ala14280Thr | |
| XM_024453098.1:c.42757G>A (TTN) | XP_024308866.1:p.Ala14253Thr | |
| XM_024453099.1:c.24520G>A (TTN) | XP_024308867.1:p.Ala8174Thr | |
| XM_024453100.1:c.14374G>A (TTN) | XP_024308868.1:p.Ala4792Thr |