Linked Data
ClinVar Variation Id:
47005
dbSNP Id:
rs397517588
ExAC:
2:179483454 A / G
gnomAD v2:
2-179483454-A-G
gnomAD v3:
2-178618727-A-G
gnomAD v4:
2-178618727-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618727A>G , CM000664.2:g.178618727A>G | GRCh38 |
| NC_000002.11:g.179483454A>G , CM000664.1:g.179483454A>G | GRCh37 |
| NC_000002.10:g.179191699A>G | NCBI36 |
| NG_011618.3:g.217076T>C , LRG_391:g.217076T>C | |
| NG_051363.1:g.100901A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39119T>C (TTN) | ENSP00000343764.6:p.Leu13040Ser | |
| ENST00000342175.11:c.20204T>C (TTN) | ENSP00000340554.6:p.Leu6735Ser | |
| ENST00000359218.10:c.20003T>C (TTN) | ENSP00000352154.5:p.Leu6668Ser | |
| ENST00000342175.10:c.20204T>C (TTN) | ENSP00000340554.6:p.Leu6735Ser | |
| ENST00000342992.10:c.39119T>C (TTN) | ENSP00000343764.6:p.Leu13040Ser | |
| ENST00000359218.9:c.20003T>C (TTN) | ENSP00000352154.5:p.Leu6668Ser | |
| ENST00000460472.6:c.19628T>C (TTN) | ENSP00000434586.1:p.Leu6543Ser | |
| ENST00000589042.5:c.46823T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu15608Ser | |
| ENST00000591111.5:c.41900T>C (TTN) | ENSP00000465570.1:p.Leu13967Ser | |
| ENST00000615779.4:c.41900T>C (TTN) | ENSP00000483597.1:p.Leu13967Ser | |
| NM_001256850.1:c.41900T>C (TTN) | NP_001243779.1:p.Leu13967Ser | |
| NM_001267550.2:c.46823T>C (TTN) MANE Select | NP_001254479.2:p.Leu15608Ser | |
| NM_003319.4:c.19628T>C (TTN) | NP_003310.4:p.Leu6543Ser | |
| NM_133378.4:c.39119T>C (TTN) | NP_596869.4:p.Leu13040Ser | |
| NM_133432.3:c.20003T>C (TTN) | NP_597676.3:p.Leu6668Ser | |
| NM_133437.4:c.20204T>C (TTN) | NP_597681.4:p.Leu6735Ser | |
| NR_038271.1:n.1605-1026A>G (TTN-AS1) | ||
| XM_011511729.1:c.45920T>C (TTN) | XP_011510031.1:p.Leu15307Ser | |
| XM_011511730.1:c.19814T>C (TTN) | XP_011510032.1:p.Leu6605Ser | |
| XM_011511731.1:c.19673T>C (TTN) | XP_011510033.1:p.Leu6558Ser | |
| XM_017004819.1:c.45716T>C (TTN) | XP_016860308.1:p.Leu15239Ser | |
| XM_017004820.1:c.41114T>C (TTN) | XP_016860309.1:p.Leu13705Ser | |
| XM_017004821.1:c.41111T>C (TTN) | XP_016860310.1:p.Leu13704Ser | |
| XM_017004822.1:c.38153T>C (TTN) | XP_016860311.1:p.Leu12718Ser | |
| XM_017004823.1:c.19769T>C (TTN) | XP_016860312.1:p.Leu6590Ser | |
| XM_024453094.1:c.41264T>C (TTN) | XP_024308862.1:p.Leu13755Ser | |
| XM_024453095.1:c.41261T>C (TTN) | XP_024308863.1:p.Leu13754Ser | |
| XM_024453096.1:c.40694T>C (TTN) | XP_024308864.1:p.Leu13565Ser | |
| XM_024453097.1:c.38036T>C (TTN) | XP_024308865.1:p.Leu12679Ser | |
| XM_024453098.1:c.37955T>C (TTN) | XP_024308866.1:p.Leu12652Ser | |
| XM_024453099.1:c.19718T>C (TTN) | XP_024308867.1:p.Leu6573Ser | |
| XM_024453100.1:c.9572T>C (TTN) | XP_024308868.1:p.Leu3191Ser |