Linked Data
ClinVar Variation Id:
534978
dbSNP Id:
rs778112130
ExAC:
2:179477750 T / C
gnomAD v2:
2-179477750-T-C
gnomAD v4:
2-178613023-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613023T>C , CM000664.2:g.178613023T>C | GRCh38 |
| NC_000002.11:g.179477750T>C , CM000664.1:g.179477750T>C | GRCh37 |
| NC_000002.10:g.179185995T>C | NCBI36 |
| NG_011618.3:g.222780A>G , LRG_391:g.222780A>G | |
| NG_051363.1:g.95197T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41994A>G (TTN) | ENSP00000343764.6:p.Thr13998= | |
| ENST00000342175.11:c.23079A>G (TTN) | ENSP00000340554.6:p.Thr7693= | |
| ENST00000359218.10:c.22878A>G (TTN) | ENSP00000352154.5:p.Thr7626= | |
| ENST00000342175.10:c.23079A>G (TTN) | ENSP00000340554.6:p.Thr7693= | |
| ENST00000342992.10:c.41994A>G (TTN) | ENSP00000343764.6:p.Thr13998= | |
| ENST00000359218.9:c.22878A>G (TTN) | ENSP00000352154.5:p.Thr7626= | |
| ENST00000460472.6:c.22503A>G (TTN) | ENSP00000434586.1:p.Thr7501= | |
| ENST00000589042.5:c.49698A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr16566= | |
| ENST00000591111.5:c.44775A>G (TTN) | ENSP00000465570.1:p.Thr14925= | |
| ENST00000615779.4:c.44775A>G (TTN) | ENSP00000483597.1:p.Thr14925= | |
| NM_001256850.1:c.44775A>G (TTN) | NP_001243779.1:p.Thr14925= | |
| NM_001267550.2:c.49698A>G (TTN) MANE Select | NP_001254479.2:p.Thr16566= | |
| NM_003319.4:c.22503A>G (TTN) | NP_003310.4:p.Thr7501= | |
| NM_133378.4:c.41994A>G (TTN) | NP_596869.4:p.Thr13998= | |
| NM_133432.3:c.22878A>G (TTN) | NP_597676.3:p.Thr7626= | |
| NM_133437.4:c.23079A>G (TTN) | NP_597681.4:p.Thr7693= | |
| NR_038271.1:n.783-1012T>C (TTN-AS1) | ||
| XM_011511729.1:c.48795A>G (TTN) | XP_011510031.1:p.Thr16265= | |
| XM_011511730.1:c.22689A>G (TTN) | XP_011510032.1:p.Thr7563= | |
| XM_011511731.1:c.22548A>G (TTN) | XP_011510033.1:p.Thr7516= | |
| XM_017004819.1:c.48591A>G (TTN) | XP_016860308.1:p.Thr16197= | |
| XM_017004820.1:c.43989A>G (TTN) | XP_016860309.1:p.Thr14663= | |
| XM_017004821.1:c.43986A>G (TTN) | XP_016860310.1:p.Thr14662= | |
| XM_017004822.1:c.41028A>G (TTN) | XP_016860311.1:p.Thr13676= | |
| XM_017004823.1:c.22644A>G (TTN) | XP_016860312.1:p.Thr7548= | |
| XM_024453094.1:c.44139A>G (TTN) | XP_024308862.1:p.Thr14713= | |
| XM_024453095.1:c.44136A>G (TTN) | XP_024308863.1:p.Thr14712= | |
| XM_024453096.1:c.43569A>G (TTN) | XP_024308864.1:p.Thr14523= | |
| XM_024453097.1:c.40911A>G (TTN) | XP_024308865.1:p.Thr13637= | |
| XM_024453098.1:c.40830A>G (TTN) | XP_024308866.1:p.Thr13610= | |
| XM_024453099.1:c.22593A>G (TTN) | XP_024308867.1:p.Thr7531= | |
| XM_024453100.1:c.12447A>G (TTN) | XP_024308868.1:p.Thr4149= |