Linked Data
ClinVar Variation Id:
238802
dbSNP Id:
rs200544272
ExAC:
2:179463880 G / T
gnomAD v2:
2-179463880-G-T
gnomAD v3:
2-178599153-G-T
gnomAD v4:
2-178599153-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599153G>T , CM000664.2:g.178599153G>T | GRCh38 |
| NC_000002.11:g.179463880G>T , CM000664.1:g.179463880G>T | GRCh37 |
| NC_000002.10:g.179172125G>T | NCBI36 |
| NG_011618.3:g.236650C>A , LRG_391:g.236650C>A | |
| NG_051363.1:g.81327G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48936C>A (TTN) | ENSP00000343764.6:p.Asn16312Lys | |
| ENST00000342175.11:c.30021C>A (TTN) | ENSP00000340554.6:p.Asn10007Lys | |
| ENST00000359218.10:c.29820C>A (TTN) | ENSP00000352154.5:p.Asn9940Lys | |
| ENST00000342175.10:c.30021C>A (TTN) | ENSP00000340554.6:p.Asn10007Lys | |
| ENST00000342992.10:c.48936C>A (TTN) | ENSP00000343764.6:p.Asn16312Lys | |
| ENST00000359218.9:c.29820C>A (TTN) | ENSP00000352154.5:p.Asn9940Lys | |
| ENST00000460472.6:c.29445C>A (TTN) | ENSP00000434586.1:p.Asn9815Lys | |
| ENST00000589042.5:c.56640C>A (TTN) MANE Select | ENSP00000467141.1:p.Asn18880Lys | |
| ENST00000591111.5:c.51717C>A (TTN) | ENSP00000465570.1:p.Asn17239Lys | |
| ENST00000615779.4:c.51717C>A (TTN) | ENSP00000483597.1:p.Asn17239Lys | |
| NM_001256850.1:c.51717C>A (TTN) | NP_001243779.1:p.Asn17239Lys | |
| NM_001267550.2:c.56640C>A (TTN) MANE Select | NP_001254479.2:p.Asn18880Lys | |
| NM_003319.4:c.29445C>A (TTN) | NP_003310.4:p.Asn9815Lys | |
| NM_133378.4:c.48936C>A (TTN) | NP_596869.4:p.Asn16312Lys | |
| NM_133432.3:c.29820C>A (TTN) | NP_597676.3:p.Asn9940Lys | |
| NM_133437.4:c.30021C>A (TTN) | NP_597681.4:p.Asn10007Lys | |
| NR_038271.1:n.682+1472G>T (TTN-AS1) | ||
| NR_038272.1:n.3569-441G>T (TTN-AS1) | ||
| XM_011511729.1:c.55737C>A (TTN) | XP_011510031.1:p.Asn18579Lys | |
| XM_011511730.1:c.29631C>A (TTN) | XP_011510032.1:p.Asn9877Lys | |
| XM_011511731.1:c.29490C>A (TTN) | XP_011510033.1:p.Asn9830Lys | |
| XM_017004819.1:c.55533C>A (TTN) | XP_016860308.1:p.Asn18511Lys | |
| XM_017004820.1:c.50931C>A (TTN) | XP_016860309.1:p.Asn16977Lys | |
| XM_017004821.1:c.50928C>A (TTN) | XP_016860310.1:p.Asn16976Lys | |
| XM_017004822.1:c.47970C>A (TTN) | XP_016860311.1:p.Asn15990Lys | |
| XM_017004823.1:c.29586C>A (TTN) | XP_016860312.1:p.Asn9862Lys | |
| XM_024453094.1:c.51081C>A (TTN) | XP_024308862.1:p.Asn17027Lys | |
| XM_024453095.1:c.51078C>A (TTN) | XP_024308863.1:p.Asn17026Lys | |
| XM_024453096.1:c.50511C>A (TTN) | XP_024308864.1:p.Asn16837Lys | |
| XM_024453097.1:c.47853C>A (TTN) | XP_024308865.1:p.Asn15951Lys | |
| XM_024453098.1:c.47772C>A (TTN) | XP_024308866.1:p.Asn15924Lys | |
| XM_024453099.1:c.29535C>A (TTN) | XP_024308867.1:p.Asn9845Lys | |
| XM_024453100.1:c.19389C>A (TTN) | XP_024308868.1:p.Asn6463Lys |