Linked Data
ClinVar Variation Id:
501640
dbSNP Id:
rs577667352
ExAC:
2:179398780 C / T
gnomAD v2:
2-179398780-C-T
gnomAD v3:
2-178534053-C-T
gnomAD v4:
2-178534053-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534053C>T , CM000664.2:g.178534053C>T | GRCh38 |
| NC_000002.11:g.179398780C>T , CM000664.1:g.179398780C>T | GRCh37 |
| NC_000002.10:g.179107026C>T | NCBI36 |
| NG_011618.3:g.301750G>A , LRG_391:g.301750G>A | |
| NG_051363.1:g.16227C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.94858G>A (TTN) | ENSP00000343764.6:p.Glu31620Lys | |
| ENST00000342175.11:c.75943G>A (TTN) | ENSP00000340554.6:p.Glu25315Lys | |
| ENST00000359218.10:c.75742G>A (TTN) | ENSP00000352154.5:p.Glu25248Lys | |
| ENST00000342175.10:c.75943G>A (TTN) | ENSP00000340554.6:p.Glu25315Lys | |
| ENST00000342992.10:c.94858G>A (TTN) | ENSP00000343764.6:p.Glu31620Lys | |
| ENST00000359218.9:c.75742G>A (TTN) | ENSP00000352154.5:p.Glu25248Lys | |
| ENST00000460472.6:c.75367G>A (TTN) | ENSP00000434586.1:p.Glu25123Lys | |
| ENST00000589042.5:c.102562G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu34188Lys | |
| ENST00000591111.5:c.97639G>A (TTN) | ENSP00000465570.1:p.Glu32547Lys | |
| ENST00000615779.4:c.97639G>A (TTN) | ENSP00000483597.1:p.Glu32547Lys | |
| NM_001256850.1:c.97639G>A (TTN) | NP_001243779.1:p.Glu32547Lys | |
| NM_001267550.2:c.102562G>A (TTN) MANE Select | NP_001254479.2:p.Glu34188Lys | |
| NM_003319.4:c.75367G>A (TTN) | NP_003310.4:p.Glu25123Lys | |
| NM_133378.4:c.94858G>A (TTN) | NP_596869.4:p.Glu31620Lys | |
| NM_133432.3:c.75742G>A (TTN) | NP_597676.3:p.Glu25248Lys | |
| NM_133437.4:c.75943G>A (TTN) | NP_597681.4:p.Glu25315Lys | |
| NR_038271.1:n.446+10417C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1679C>T (TTN-AS1) | ||
| XM_011511729.1:c.101659G>A (TTN) | XP_011510031.1:p.Glu33887Lys | |
| XM_011511730.1:c.75553G>A (TTN) | XP_011510032.1:p.Glu25185Lys | |
| XM_011511731.1:c.75412G>A (TTN) | XP_011510033.1:p.Glu25138Lys | |
| XM_017004819.1:c.101455G>A (TTN) | XP_016860308.1:p.Glu33819Lys | |
| XM_017004820.1:c.96853G>A (TTN) | XP_016860309.1:p.Glu32285Lys | |
| XM_017004821.1:c.96850G>A (TTN) | XP_016860310.1:p.Glu32284Lys | |
| XM_017004822.1:c.93892G>A (TTN) | XP_016860311.1:p.Glu31298Lys | |
| XM_017004823.1:c.75508G>A (TTN) | XP_016860312.1:p.Glu25170Lys | |
| XM_024453094.1:c.97003G>A (TTN) | XP_024308862.1:p.Glu32335Lys | |
| XM_024453095.1:c.97000G>A (TTN) | XP_024308863.1:p.Glu32334Lys | |
| XM_024453096.1:c.96433G>A (TTN) | XP_024308864.1:p.Glu32145Lys | |
| XM_024453097.1:c.93775G>A (TTN) | XP_024308865.1:p.Glu31259Lys | |
| XM_024453098.1:c.93694G>A (TTN) | XP_024308866.1:p.Glu31232Lys | |
| XM_024453099.1:c.75457G>A (TTN) | XP_024308867.1:p.Glu25153Lys | |
| XM_024453100.1:c.65311G>A (TTN) | XP_024308868.1:p.Glu21771Lys |