Linked Data
ClinVar Variation Id:
130672
dbSNP Id:
rs587780489
gnomAD v3:
2-178597809-G-A
gnomAD v4:
2-178597809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597809G>A , CM000664.2:g.178597809G>A | GRCh38 |
| NC_000002.11:g.179462536G>A , CM000664.1:g.179462536G>A | GRCh37 |
| NC_000002.10:g.179170781G>A | NCBI36 |
| NG_011618.3:g.237994C>T , LRG_391:g.237994C>T | |
| NG_051363.1:g.79983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49569C>T (TTN) | ENSP00000343764.6:p.Asp16523= | |
| ENST00000342175.11:c.30654C>T (TTN) | ENSP00000340554.6:p.Asp10218= | |
| ENST00000359218.10:c.30453C>T (TTN) | ENSP00000352154.5:p.Asp10151= | |
| ENST00000342175.10:c.30654C>T (TTN) | ENSP00000340554.6:p.Asp10218= | |
| ENST00000342992.10:c.49569C>T (TTN) | ENSP00000343764.6:p.Asp16523= | |
| ENST00000359218.9:c.30453C>T (TTN) | ENSP00000352154.5:p.Asp10151= | |
| ENST00000460472.6:c.30078C>T (TTN) | ENSP00000434586.1:p.Asp10026= | |
| ENST00000589042.5:c.57273C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp19091= | |
| ENST00000591111.5:c.52350C>T (TTN) | ENSP00000465570.1:p.Asp17450= | |
| ENST00000615779.4:c.52350C>T (TTN) | ENSP00000483597.1:p.Asp17450= | |
| NM_001256850.1:c.52350C>T (TTN) | NP_001243779.1:p.Asp17450= | |
| NM_001267550.2:c.57273C>T (TTN) MANE Select | NP_001254479.2:p.Asp19091= | |
| NM_003319.4:c.30078C>T (TTN) | NP_003310.4:p.Asp10026= | |
| NM_133378.4:c.49569C>T (TTN) | NP_596869.4:p.Asp16523= | |
| NM_133432.3:c.30453C>T (TTN) | NP_597676.3:p.Asp10151= | |
| NM_133437.4:c.30654C>T (TTN) | NP_597681.4:p.Asp10218= | |
| NR_038271.1:n.682+128G>A (TTN-AS1) | ||
| NR_038272.1:n.3450+128G>A (TTN-AS1) | ||
| XM_011511729.1:c.56370C>T (TTN) | XP_011510031.1:p.Asp18790= | |
| XM_011511730.1:c.30264C>T (TTN) | XP_011510032.1:p.Asp10088= | |
| XM_011511731.1:c.30123C>T (TTN) | XP_011510033.1:p.Asp10041= | |
| XM_017004819.1:c.56166C>T (TTN) | XP_016860308.1:p.Asp18722= | |
| XM_017004820.1:c.51564C>T (TTN) | XP_016860309.1:p.Asp17188= | |
| XM_017004821.1:c.51561C>T (TTN) | XP_016860310.1:p.Asp17187= | |
| XM_017004822.1:c.48603C>T (TTN) | XP_016860311.1:p.Asp16201= | |
| XM_017004823.1:c.30219C>T (TTN) | XP_016860312.1:p.Asp10073= | |
| XM_024453094.1:c.51714C>T (TTN) | XP_024308862.1:p.Asp17238= | |
| XM_024453095.1:c.51711C>T (TTN) | XP_024308863.1:p.Asp17237= | |
| XM_024453096.1:c.51144C>T (TTN) | XP_024308864.1:p.Asp17048= | |
| XM_024453097.1:c.48486C>T (TTN) | XP_024308865.1:p.Asp16162= | |
| XM_024453098.1:c.48405C>T (TTN) | XP_024308866.1:p.Asp16135= | |
| XM_024453099.1:c.30168C>T (TTN) | XP_024308867.1:p.Asp10056= | |
| XM_024453100.1:c.20022C>T (TTN) | XP_024308868.1:p.Asp6674= |