Linked Data
ClinVar Variation Id:
238844
dbSNP Id:
rs757343393
ExAC:
2:179434862 C / T
gnomAD v2:
2-179434862-C-T
gnomAD v3:
2-178570135-C-T
gnomAD v4:
2-178570135-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570135C>T , CM000664.2:g.178570135C>T | GRCh38 |
| NC_000002.11:g.179434862C>T , CM000664.1:g.179434862C>T | GRCh37 |
| NC_000002.10:g.179143108C>T | NCBI36 |
| NG_011618.3:g.265668G>A , LRG_391:g.265668G>A | |
| NG_051363.1:g.52309C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68293G>A (TTN) | ENSP00000343764.6:p.Gly22765Ser | |
| ENST00000342175.11:c.49378G>A (TTN) | ENSP00000340554.6:p.Gly16460Ser | |
| ENST00000359218.10:c.49177G>A (TTN) | ENSP00000352154.5:p.Gly16393Ser | |
| ENST00000342175.10:c.49378G>A (TTN) | ENSP00000340554.6:p.Gly16460Ser | |
| ENST00000342992.10:c.68293G>A (TTN) | ENSP00000343764.6:p.Gly22765Ser | |
| ENST00000359218.9:c.49177G>A (TTN) | ENSP00000352154.5:p.Gly16393Ser | |
| ENST00000460472.6:c.48802G>A (TTN) | ENSP00000434586.1:p.Gly16268Ser | |
| ENST00000589042.5:c.75997G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly25333Ser | |
| ENST00000591111.5:c.71074G>A (TTN) | ENSP00000465570.1:p.Gly23692Ser | |
| ENST00000615779.4:c.71074G>A (TTN) | ENSP00000483597.1:p.Gly23692Ser | |
| NM_001256850.1:c.71074G>A (TTN) | NP_001243779.1:p.Gly23692Ser | |
| NM_001267550.2:c.75997G>A (TTN) MANE Select | NP_001254479.2:p.Gly25333Ser | |
| NM_003319.4:c.48802G>A (TTN) | NP_003310.4:p.Gly16268Ser | |
| NM_133378.4:c.68293G>A (TTN) | NP_596869.4:p.Gly22765Ser | |
| NM_133432.3:c.49177G>A (TTN) | NP_597676.3:p.Gly16393Ser | |
| NM_133437.4:c.49378G>A (TTN) | NP_597681.4:p.Gly16460Ser | |
| NR_038271.1:n.447-1165C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-12437C>T (TTN-AS1) | ||
| XM_011511729.1:c.75094G>A (TTN) | XP_011510031.1:p.Gly25032Ser | |
| XM_011511730.1:c.48988G>A (TTN) | XP_011510032.1:p.Gly16330Ser | |
| XM_011511731.1:c.48847G>A (TTN) | XP_011510033.1:p.Gly16283Ser | |
| XM_017004819.1:c.74890G>A (TTN) | XP_016860308.1:p.Gly24964Ser | |
| XM_017004820.1:c.70288G>A (TTN) | XP_016860309.1:p.Gly23430Ser | |
| XM_017004821.1:c.70285G>A (TTN) | XP_016860310.1:p.Gly23429Ser | |
| XM_017004822.1:c.67327G>A (TTN) | XP_016860311.1:p.Gly22443Ser | |
| XM_017004823.1:c.48943G>A (TTN) | XP_016860312.1:p.Gly16315Ser | |
| XM_024453094.1:c.70438G>A (TTN) | XP_024308862.1:p.Gly23480Ser | |
| XM_024453095.1:c.70435G>A (TTN) | XP_024308863.1:p.Gly23479Ser | |
| XM_024453096.1:c.69868G>A (TTN) | XP_024308864.1:p.Gly23290Ser | |
| XM_024453097.1:c.67210G>A (TTN) | XP_024308865.1:p.Gly22404Ser | |
| XM_024453098.1:c.67129G>A (TTN) | XP_024308866.1:p.Gly22377Ser | |
| XM_024453099.1:c.48892G>A (TTN) | XP_024308867.1:p.Gly16298Ser | |
| XM_024453100.1:c.38746G>A (TTN) | XP_024308868.1:p.Gly12916Ser |