Linked Data
ClinVar Variation Id:
535457
dbSNP Id:
rs368263400
ExAC:
2:179430631 T / G
gnomAD v2:
2-179430631-T-G
gnomAD v3:
2-178565904-T-G
gnomAD v4:
2-178565904-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565904T>G , CM000664.2:g.178565904T>G | GRCh38 |
| NC_000002.11:g.179430631T>G , CM000664.1:g.179430631T>G | GRCh37 |
| NC_000002.10:g.179138877T>G | NCBI36 |
| NG_011618.3:g.269899A>C , LRG_391:g.269899A>C | |
| NG_051363.1:g.48078T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72524A>C (TTN) | ENSP00000343764.6:p.Lys24175Thr | |
| ENST00000342175.11:c.53609A>C (TTN) | ENSP00000340554.6:p.Lys17870Thr | |
| ENST00000359218.10:c.53408A>C (TTN) | ENSP00000352154.5:p.Lys17803Thr | |
| ENST00000342175.10:c.53609A>C (TTN) | ENSP00000340554.6:p.Lys17870Thr | |
| ENST00000342992.10:c.72524A>C (TTN) | ENSP00000343764.6:p.Lys24175Thr | |
| ENST00000359218.9:c.53408A>C (TTN) | ENSP00000352154.5:p.Lys17803Thr | |
| ENST00000460472.6:c.53033A>C (TTN) | ENSP00000434586.1:p.Lys17678Thr | |
| ENST00000589042.5:c.80228A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys26743Thr | |
| ENST00000591111.5:c.75305A>C (TTN) | ENSP00000465570.1:p.Lys25102Thr | |
| ENST00000615779.4:c.75305A>C (TTN) | ENSP00000483597.1:p.Lys25102Thr | |
| NM_001256850.1:c.75305A>C (TTN) | NP_001243779.1:p.Lys25102Thr | |
| NM_001267550.2:c.80228A>C (TTN) MANE Select | NP_001254479.2:p.Lys26743Thr | |
| NM_003319.4:c.53033A>C (TTN) | NP_003310.4:p.Lys17678Thr | |
| NM_133378.4:c.72524A>C (TTN) | NP_596869.4:p.Lys24175Thr | |
| NM_133432.3:c.53408A>C (TTN) | NP_597676.3:p.Lys17803Thr | |
| NM_133437.4:c.53609A>C (TTN) | NP_597681.4:p.Lys17870Thr | |
| NR_038271.1:n.447-5396T>G (TTN-AS1) | ||
| NR_038272.1:n.2044-16668T>G (TTN-AS1) | ||
| XM_011511729.1:c.79325A>C (TTN) | XP_011510031.1:p.Lys26442Thr | |
| XM_011511730.1:c.53219A>C (TTN) | XP_011510032.1:p.Lys17740Thr | |
| XM_011511731.1:c.53078A>C (TTN) | XP_011510033.1:p.Lys17693Thr | |
| XM_017004819.1:c.79121A>C (TTN) | XP_016860308.1:p.Lys26374Thr | |
| XM_017004820.1:c.74519A>C (TTN) | XP_016860309.1:p.Lys24840Thr | |
| XM_017004821.1:c.74516A>C (TTN) | XP_016860310.1:p.Lys24839Thr | |
| XM_017004822.1:c.71558A>C (TTN) | XP_016860311.1:p.Lys23853Thr | |
| XM_017004823.1:c.53174A>C (TTN) | XP_016860312.1:p.Lys17725Thr | |
| XM_024453094.1:c.74669A>C (TTN) | XP_024308862.1:p.Lys24890Thr | |
| XM_024453095.1:c.74666A>C (TTN) | XP_024308863.1:p.Lys24889Thr | |
| XM_024453096.1:c.74099A>C (TTN) | XP_024308864.1:p.Lys24700Thr | |
| XM_024453097.1:c.71441A>C (TTN) | XP_024308865.1:p.Lys23814Thr | |
| XM_024453098.1:c.71360A>C (TTN) | XP_024308866.1:p.Lys23787Thr | |
| XM_024453099.1:c.53123A>C (TTN) | XP_024308867.1:p.Lys17708Thr | |
| XM_024453100.1:c.42977A>C (TTN) | XP_024308868.1:p.Lys14326Thr |