Linked Data
ClinVar Variation Id:
405041
dbSNP Id:
rs1060500541
gnomAD v2:
2-179391758-A-G
gnomAD v4:
2-178527031-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527031A>G , CM000664.2:g.178527031A>G | GRCh38 |
| NC_000002.11:g.179391758A>G , CM000664.1:g.179391758A>G | GRCh37 |
| NC_000002.10:g.179100004A>G | NCBI36 |
| NG_011618.3:g.308772T>C , LRG_391:g.308772T>C | |
| NG_051363.1:g.9205A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100253T>C (TTN) | ENSP00000343764.6:p.Ile33418Thr | |
| ENST00000342175.11:c.81338T>C (TTN) | ENSP00000340554.6:p.Ile27113Thr | |
| ENST00000359218.10:c.81137T>C (TTN) | ENSP00000352154.5:p.Ile27046Thr | |
| ENST00000342175.10:c.81338T>C (TTN) | ENSP00000340554.6:p.Ile27113Thr | |
| ENST00000342992.10:c.100253T>C (TTN) | ENSP00000343764.6:p.Ile33418Thr | |
| ENST00000359218.9:c.81137T>C (TTN) | ENSP00000352154.5:p.Ile27046Thr | |
| ENST00000460472.6:c.80762T>C (TTN) | ENSP00000434586.1:p.Ile26921Thr | |
| ENST00000589042.5:c.107957T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile35986Thr | |
| ENST00000591111.5:c.103034T>C (TTN) | ENSP00000465570.1:p.Ile34345Thr | |
| ENST00000615779.4:c.103034T>C (TTN) | ENSP00000483597.1:p.Ile34345Thr | |
| NM_001256850.1:c.103034T>C (TTN) | NP_001243779.1:p.Ile34345Thr | |
| NM_001267550.2:c.107957T>C (TTN) MANE Select | NP_001254479.2:p.Ile35986Thr | |
| NM_003319.4:c.80762T>C (TTN) | NP_003310.4:p.Ile26921Thr | |
| NM_133378.4:c.100253T>C (TTN) | NP_596869.4:p.Ile33418Thr | |
| NM_133432.3:c.81137T>C (TTN) | NP_597676.3:p.Ile27046Thr | |
| NM_133437.4:c.81338T>C (TTN) | NP_597681.4:p.Ile27113Thr | |
| NR_038271.1:n.446+3395A>G (TTN-AS1) | ||
| NR_038272.1:n.219+3395A>G (TTN-AS1) | ||
| XM_011511729.1:c.107054T>C (TTN) | XP_011510031.1:p.Ile35685Thr | |
| XM_011511730.1:c.80948T>C (TTN) | XP_011510032.1:p.Ile26983Thr | |
| XM_011511731.1:c.80807T>C (TTN) | XP_011510033.1:p.Ile26936Thr | |
| XM_017004819.1:c.106850T>C (TTN) | XP_016860308.1:p.Ile35617Thr | |
| XM_017004820.1:c.102248T>C (TTN) | XP_016860309.1:p.Ile34083Thr | |
| XM_017004821.1:c.102245T>C (TTN) | XP_016860310.1:p.Ile34082Thr | |
| XM_017004822.1:c.99287T>C (TTN) | XP_016860311.1:p.Ile33096Thr | |
| XM_017004823.1:c.80903T>C (TTN) | XP_016860312.1:p.Ile26968Thr | |
| XM_024453094.1:c.102398T>C (TTN) | XP_024308862.1:p.Ile34133Thr | |
| XM_024453095.1:c.102395T>C (TTN) | XP_024308863.1:p.Ile34132Thr | |
| XM_024453096.1:c.101828T>C (TTN) | XP_024308864.1:p.Ile33943Thr | |
| XM_024453097.1:c.99170T>C (TTN) | XP_024308865.1:p.Ile33057Thr | |
| XM_024453098.1:c.99089T>C (TTN) | XP_024308866.1:p.Ile33030Thr | |
| XM_024453099.1:c.80852T>C (TTN) | XP_024308867.1:p.Ile26951Thr | |
| XM_024453100.1:c.70706T>C (TTN) | XP_024308868.1:p.Ile23569Thr |