Linked Data
ClinVar Variation Id:
47101
dbSNP Id:
rs72646819
ExAC:
2:179466859 A / G
gnomAD v2:
2-179466859-A-G
gnomAD v3:
2-178602132-A-G
gnomAD v4:
2-178602132-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602132A>G , CM000664.2:g.178602132A>G | GRCh38 |
| NC_000002.11:g.179466859A>G , CM000664.1:g.179466859A>G | GRCh37 |
| NC_000002.10:g.179175104A>G | NCBI36 |
| NG_011618.3:g.233671T>C , LRG_391:g.233671T>C | |
| NG_051363.1:g.84306A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47435T>C (TTN) | ENSP00000343764.6:p.Ile15812Thr | |
| ENST00000342175.11:c.28520T>C (TTN) | ENSP00000340554.6:p.Ile9507Thr | |
| ENST00000359218.10:c.28319T>C (TTN) | ENSP00000352154.5:p.Ile9440Thr | |
| ENST00000342175.10:c.28520T>C (TTN) | ENSP00000340554.6:p.Ile9507Thr | |
| ENST00000342992.10:c.47435T>C (TTN) | ENSP00000343764.6:p.Ile15812Thr | |
| ENST00000359218.9:c.28319T>C (TTN) | ENSP00000352154.5:p.Ile9440Thr | |
| ENST00000460472.6:c.27944T>C (TTN) | ENSP00000434586.1:p.Ile9315Thr | |
| ENST00000589042.5:c.55139T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile18380Thr | |
| ENST00000591111.5:c.50216T>C (TTN) | ENSP00000465570.1:p.Ile16739Thr | |
| ENST00000615779.4:c.50216T>C (TTN) | ENSP00000483597.1:p.Ile16739Thr | |
| NM_001256850.1:c.50216T>C (TTN) | NP_001243779.1:p.Ile16739Thr | |
| NM_001267550.2:c.55139T>C (TTN) MANE Select | NP_001254479.2:p.Ile18380Thr | |
| NM_003319.4:c.27944T>C (TTN) | NP_003310.4:p.Ile9315Thr | |
| NM_133378.4:c.47435T>C (TTN) | NP_596869.4:p.Ile15812Thr | |
| NM_133432.3:c.28319T>C (TTN) | NP_597676.3:p.Ile9440Thr | |
| NM_133437.4:c.28520T>C (TTN) | NP_597681.4:p.Ile9507Thr | |
| NR_038271.1:n.682+4451A>G (TTN-AS1) | ||
| NR_038272.1:n.3917+1465A>G (TTN-AS1) | ||
| XM_011511729.1:c.54236T>C (TTN) | XP_011510031.1:p.Ile18079Thr | |
| XM_011511730.1:c.28130T>C (TTN) | XP_011510032.1:p.Ile9377Thr | |
| XM_011511731.1:c.27989T>C (TTN) | XP_011510033.1:p.Ile9330Thr | |
| XM_017004819.1:c.54032T>C (TTN) | XP_016860308.1:p.Ile18011Thr | |
| XM_017004820.1:c.49430T>C (TTN) | XP_016860309.1:p.Ile16477Thr | |
| XM_017004821.1:c.49427T>C (TTN) | XP_016860310.1:p.Ile16476Thr | |
| XM_017004822.1:c.46469T>C (TTN) | XP_016860311.1:p.Ile15490Thr | |
| XM_017004823.1:c.28085T>C (TTN) | XP_016860312.1:p.Ile9362Thr | |
| XM_024453094.1:c.49580T>C (TTN) | XP_024308862.1:p.Ile16527Thr | |
| XM_024453095.1:c.49577T>C (TTN) | XP_024308863.1:p.Ile16526Thr | |
| XM_024453096.1:c.49010T>C (TTN) | XP_024308864.1:p.Ile16337Thr | |
| XM_024453097.1:c.46352T>C (TTN) | XP_024308865.1:p.Ile15451Thr | |
| XM_024453098.1:c.46271T>C (TTN) | XP_024308866.1:p.Ile15424Thr | |
| XM_024453099.1:c.28034T>C (TTN) | XP_024308867.1:p.Ile9345Thr | |
| XM_024453100.1:c.17888T>C (TTN) | XP_024308868.1:p.Ile5963Thr |