Linked Data
ClinVar Variation Id:
332857
ClinVar RCV Id:
RCV000264075
RCV000308815
RCV000314013
RCV000364052
RCV000358919
RCV000423513
RCV000643205
RCV001311255
RCV002418196
dbSNP Id:
rs190058852
ExAC:
2:179483477 T / C
gnomAD v2:
2-179483477-T-C
gnomAD v3:
2-178618750-T-C
gnomAD v4:
2-178618750-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618750T>C , CM000664.2:g.178618750T>C | GRCh38 |
| NC_000002.11:g.179483477T>C , CM000664.1:g.179483477T>C | GRCh37 |
| NC_000002.10:g.179191722T>C | NCBI36 |
| NG_011618.3:g.217053A>G , LRG_391:g.217053A>G | |
| NG_051363.1:g.100924T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39096A>G (TTN) | ENSP00000343764.6:p.Glu13032= | |
| ENST00000342175.11:c.20181A>G (TTN) | ENSP00000340554.6:p.Glu6727= | |
| ENST00000359218.10:c.19980A>G (TTN) | ENSP00000352154.5:p.Glu6660= | |
| ENST00000342175.10:c.20181A>G (TTN) | ENSP00000340554.6:p.Glu6727= | |
| ENST00000342992.10:c.39096A>G (TTN) | ENSP00000343764.6:p.Glu13032= | |
| ENST00000359218.9:c.19980A>G (TTN) | ENSP00000352154.5:p.Glu6660= | |
| ENST00000460472.6:c.19605A>G (TTN) | ENSP00000434586.1:p.Glu6535= | |
| ENST00000589042.5:c.46800A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu15600= | |
| ENST00000591111.5:c.41877A>G (TTN) | ENSP00000465570.1:p.Glu13959= | |
| ENST00000615779.4:c.41877A>G (TTN) | ENSP00000483597.1:p.Glu13959= | |
| NM_001256850.1:c.41877A>G (TTN) | NP_001243779.1:p.Glu13959= | |
| NM_001267550.2:c.46800A>G (TTN) MANE Select | NP_001254479.2:p.Glu15600= | |
| NM_003319.4:c.19605A>G (TTN) | NP_003310.4:p.Glu6535= | |
| NM_133378.4:c.39096A>G (TTN) | NP_596869.4:p.Glu13032= | |
| NM_133432.3:c.19980A>G (TTN) | NP_597676.3:p.Glu6660= | |
| NM_133437.4:c.20181A>G (TTN) | NP_597681.4:p.Glu6727= | |
| NR_038271.1:n.1605-1003T>C (TTN-AS1) | ||
| XM_011511729.1:c.45897A>G (TTN) | XP_011510031.1:p.Glu15299= | |
| XM_011511730.1:c.19791A>G (TTN) | XP_011510032.1:p.Glu6597= | |
| XM_011511731.1:c.19650A>G (TTN) | XP_011510033.1:p.Glu6550= | |
| XM_017004819.1:c.45693A>G (TTN) | XP_016860308.1:p.Glu15231= | |
| XM_017004820.1:c.41091A>G (TTN) | XP_016860309.1:p.Glu13697= | |
| XM_017004821.1:c.41088A>G (TTN) | XP_016860310.1:p.Glu13696= | |
| XM_017004822.1:c.38130A>G (TTN) | XP_016860311.1:p.Glu12710= | |
| XM_017004823.1:c.19746A>G (TTN) | XP_016860312.1:p.Glu6582= | |
| XM_024453094.1:c.41241A>G (TTN) | XP_024308862.1:p.Glu13747= | |
| XM_024453095.1:c.41238A>G (TTN) | XP_024308863.1:p.Glu13746= | |
| XM_024453096.1:c.40671A>G (TTN) | XP_024308864.1:p.Glu13557= | |
| XM_024453097.1:c.38013A>G (TTN) | XP_024308865.1:p.Glu12671= | |
| XM_024453098.1:c.37932A>G (TTN) | XP_024308866.1:p.Glu12644= | |
| XM_024453099.1:c.19695A>G (TTN) | XP_024308867.1:p.Glu6565= | |
| XM_024453100.1:c.9549A>G (TTN) | XP_024308868.1:p.Glu3183= |