Linked Data
ClinVar Variation Id:
332781
dbSNP Id:
rs182161195
ExAC:
2:179435665 T / C
gnomAD v2:
2-179435665-T-C
gnomAD v3:
2-178570938-T-C
gnomAD v4:
2-178570938-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570938T>C , CM000664.2:g.178570938T>C | GRCh38 |
| NC_000002.11:g.179435665T>C , CM000664.1:g.179435665T>C | GRCh37 |
| NC_000002.10:g.179143911T>C | NCBI36 |
| NG_011618.3:g.264865A>G , LRG_391:g.264865A>G | |
| NG_051363.1:g.53112T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67490A>G (TTN) | ENSP00000343764.6:p.His22497Arg | |
| ENST00000342175.11:c.48575A>G (TTN) | ENSP00000340554.6:p.His16192Arg | |
| ENST00000359218.10:c.48374A>G (TTN) | ENSP00000352154.5:p.His16125Arg | |
| ENST00000342175.10:c.48575A>G (TTN) | ENSP00000340554.6:p.His16192Arg | |
| ENST00000342992.10:c.67490A>G (TTN) | ENSP00000343764.6:p.His22497Arg | |
| ENST00000359218.9:c.48374A>G (TTN) | ENSP00000352154.5:p.His16125Arg | |
| ENST00000460472.6:c.47999A>G (TTN) | ENSP00000434586.1:p.His16000Arg | |
| ENST00000589042.5:c.75194A>G (TTN) MANE Select | ENSP00000467141.1:p.His25065Arg | |
| ENST00000591111.5:c.70271A>G (TTN) | ENSP00000465570.1:p.His23424Arg | |
| ENST00000615779.4:c.70271A>G (TTN) | ENSP00000483597.1:p.His23424Arg | |
| NM_001256850.1:c.70271A>G (TTN) | NP_001243779.1:p.His23424Arg | |
| NM_001267550.2:c.75194A>G (TTN) MANE Select | NP_001254479.2:p.His25065Arg | |
| NM_003319.4:c.47999A>G (TTN) | NP_003310.4:p.His16000Arg | |
| NM_133378.4:c.67490A>G (TTN) | NP_596869.4:p.His22497Arg | |
| NM_133432.3:c.48374A>G (TTN) | NP_597676.3:p.His16125Arg | |
| NM_133437.4:c.48575A>G (TTN) | NP_597681.4:p.His16192Arg | |
| NR_038271.1:n.447-362T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-11634T>C (TTN-AS1) | ||
| XM_011511729.1:c.74291A>G (TTN) | XP_011510031.1:p.His24764Arg | |
| XM_011511730.1:c.48185A>G (TTN) | XP_011510032.1:p.His16062Arg | |
| XM_011511731.1:c.48044A>G (TTN) | XP_011510033.1:p.His16015Arg | |
| XM_017004819.1:c.74087A>G (TTN) | XP_016860308.1:p.His24696Arg | |
| XM_017004820.1:c.69485A>G (TTN) | XP_016860309.1:p.His23162Arg | |
| XM_017004821.1:c.69482A>G (TTN) | XP_016860310.1:p.His23161Arg | |
| XM_017004822.1:c.66524A>G (TTN) | XP_016860311.1:p.His22175Arg | |
| XM_017004823.1:c.48140A>G (TTN) | XP_016860312.1:p.His16047Arg | |
| XM_024453094.1:c.69635A>G (TTN) | XP_024308862.1:p.His23212Arg | |
| XM_024453095.1:c.69632A>G (TTN) | XP_024308863.1:p.His23211Arg | |
| XM_024453096.1:c.69065A>G (TTN) | XP_024308864.1:p.His23022Arg | |
| XM_024453097.1:c.66407A>G (TTN) | XP_024308865.1:p.His22136Arg | |
| XM_024453098.1:c.66326A>G (TTN) | XP_024308866.1:p.His22109Arg | |
| XM_024453099.1:c.48089A>G (TTN) | XP_024308867.1:p.His16030Arg | |
| XM_024453100.1:c.37943A>G (TTN) | XP_024308868.1:p.His12648Arg |