Linked Data
ClinVar Variation Id:
202939
ClinVar RCV Id:
RCV000259204
RCV000305120
RCV000359745
RCV000406021
RCV000299316
RCV000540529
RCV000727727
RCV002354512
dbSNP Id:
rs199501185
ExAC:
2:179422801 C / T
gnomAD v2:
2-179422801-C-T
gnomAD v3:
2-178558074-C-T
gnomAD v4:
2-178558074-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558074C>T , CM000664.2:g.178558074C>T | GRCh38 |
| NC_000002.11:g.179422801C>T , CM000664.1:g.179422801C>T | GRCh37 |
| NC_000002.10:g.179131047C>T | NCBI36 |
| NG_011618.3:g.277729G>A , LRG_391:g.277729G>A | |
| NG_051363.1:g.40248C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79576G>A (TTN) | ENSP00000343764.6:p.Glu26526Lys | |
| ENST00000342175.11:c.60661G>A (TTN) | ENSP00000340554.6:p.Glu20221Lys | |
| ENST00000359218.10:c.60460G>A (TTN) | ENSP00000352154.5:p.Glu20154Lys | |
| ENST00000342175.10:c.60661G>A (TTN) | ENSP00000340554.6:p.Glu20221Lys | |
| ENST00000342992.10:c.79576G>A (TTN) | ENSP00000343764.6:p.Glu26526Lys | |
| ENST00000359218.9:c.60460G>A (TTN) | ENSP00000352154.5:p.Glu20154Lys | |
| ENST00000460472.6:c.60085G>A (TTN) | ENSP00000434586.1:p.Glu20029Lys | |
| ENST00000589042.5:c.87280G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu29094Lys | |
| ENST00000591111.5:c.82357G>A (TTN) | ENSP00000465570.1:p.Glu27453Lys | |
| ENST00000615779.4:c.82357G>A (TTN) | ENSP00000483597.1:p.Glu27453Lys | |
| NM_001256850.1:c.82357G>A (TTN) | NP_001243779.1:p.Glu27453Lys | |
| NM_001267550.2:c.87280G>A (TTN) MANE Select | NP_001254479.2:p.Glu29094Lys | |
| NM_003319.4:c.60085G>A (TTN) | NP_003310.4:p.Glu20029Lys | |
| NM_133378.4:c.79576G>A (TTN) | NP_596869.4:p.Glu26526Lys | |
| NM_133432.3:c.60460G>A (TTN) | NP_597676.3:p.Glu20154Lys | |
| NM_133437.4:c.60661G>A (TTN) | NP_597681.4:p.Glu20221Lys | |
| NR_038271.1:n.447-13226C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15713C>T (TTN-AS1) | ||
| XM_011511729.1:c.86377G>A (TTN) | XP_011510031.1:p.Glu28793Lys | |
| XM_011511730.1:c.60271G>A (TTN) | XP_011510032.1:p.Glu20091Lys | |
| XM_011511731.1:c.60130G>A (TTN) | XP_011510033.1:p.Glu20044Lys | |
| XM_017004819.1:c.86173G>A (TTN) | XP_016860308.1:p.Glu28725Lys | |
| XM_017004820.1:c.81571G>A (TTN) | XP_016860309.1:p.Glu27191Lys | |
| XM_017004821.1:c.81568G>A (TTN) | XP_016860310.1:p.Glu27190Lys | |
| XM_017004822.1:c.78610G>A (TTN) | XP_016860311.1:p.Glu26204Lys | |
| XM_017004823.1:c.60226G>A (TTN) | XP_016860312.1:p.Glu20076Lys | |
| XM_024453094.1:c.81721G>A (TTN) | XP_024308862.1:p.Glu27241Lys | |
| XM_024453095.1:c.81718G>A (TTN) | XP_024308863.1:p.Glu27240Lys | |
| XM_024453096.1:c.81151G>A (TTN) | XP_024308864.1:p.Glu27051Lys | |
| XM_024453097.1:c.78493G>A (TTN) | XP_024308865.1:p.Glu26165Lys | |
| XM_024453098.1:c.78412G>A (TTN) | XP_024308866.1:p.Glu26138Lys | |
| XM_024453099.1:c.60175G>A (TTN) | XP_024308867.1:p.Glu20059Lys | |
| XM_024453100.1:c.50029G>A (TTN) | XP_024308868.1:p.Glu16677Lys |