Linked Data
dbSNP Id:
rs750298764
ExAC:
2:179482948 G / C
gnomAD v2:
2-179482948-G-C
gnomAD v3:
2-178618221-G-C
gnomAD v4:
2-178618221-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618221G>C , CM000664.2:g.178618221G>C | GRCh38 |
| NC_000002.11:g.179482948G>C , CM000664.1:g.179482948G>C | GRCh37 |
| NC_000002.10:g.179191193G>C | NCBI36 |
| NG_011618.3:g.217582C>G , LRG_391:g.217582C>G | |
| NG_051363.1:g.100395G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39533C>G (TTN) | ENSP00000343764.6:p.Thr13178Ser | |
| ENST00000342175.11:c.20618C>G (TTN) | ENSP00000340554.6:p.Thr6873Ser | |
| ENST00000359218.10:c.20417C>G (TTN) | ENSP00000352154.5:p.Thr6806Ser | |
| ENST00000342175.10:c.20618C>G (TTN) | ENSP00000340554.6:p.Thr6873Ser | |
| ENST00000342992.10:c.39533C>G (TTN) | ENSP00000343764.6:p.Thr13178Ser | |
| ENST00000359218.9:c.20417C>G (TTN) | ENSP00000352154.5:p.Thr6806Ser | |
| ENST00000460472.6:c.20042C>G (TTN) | ENSP00000434586.1:p.Thr6681Ser | |
| ENST00000589042.5:c.47237C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr15746Ser | |
| ENST00000591111.5:c.42314C>G (TTN) | ENSP00000465570.1:p.Thr14105Ser | |
| ENST00000615779.4:c.42314C>G (TTN) | ENSP00000483597.1:p.Thr14105Ser | |
| NM_001256850.1:c.42314C>G (TTN) | NP_001243779.1:p.Thr14105Ser | |
| NM_001267550.2:c.47237C>G (TTN) MANE Select | NP_001254479.2:p.Thr15746Ser | |
| NM_003319.4:c.20042C>G (TTN) | NP_003310.4:p.Thr6681Ser | |
| NM_133378.4:c.39533C>G (TTN) | NP_596869.4:p.Thr13178Ser | |
| NM_133432.3:c.20417C>G (TTN) | NP_597676.3:p.Thr6806Ser | |
| NM_133437.4:c.20618C>G (TTN) | NP_597681.4:p.Thr6873Ser | |
| NR_038271.1:n.1605-1532G>C (TTN-AS1) | ||
| XM_011511729.1:c.46334C>G (TTN) | XP_011510031.1:p.Thr15445Ser | |
| XM_011511730.1:c.20228C>G (TTN) | XP_011510032.1:p.Thr6743Ser | |
| XM_011511731.1:c.20087C>G (TTN) | XP_011510033.1:p.Thr6696Ser | |
| XM_017004819.1:c.46130C>G (TTN) | XP_016860308.1:p.Thr15377Ser | |
| XM_017004820.1:c.41528C>G (TTN) | XP_016860309.1:p.Thr13843Ser | |
| XM_017004821.1:c.41525C>G (TTN) | XP_016860310.1:p.Thr13842Ser | |
| XM_017004822.1:c.38567C>G (TTN) | XP_016860311.1:p.Thr12856Ser | |
| XM_017004823.1:c.20183C>G (TTN) | XP_016860312.1:p.Thr6728Ser | |
| XM_024453094.1:c.41678C>G (TTN) | XP_024308862.1:p.Thr13893Ser | |
| XM_024453095.1:c.41675C>G (TTN) | XP_024308863.1:p.Thr13892Ser | |
| XM_024453096.1:c.41108C>G (TTN) | XP_024308864.1:p.Thr13703Ser | |
| XM_024453097.1:c.38450C>G (TTN) | XP_024308865.1:p.Thr12817Ser | |
| XM_024453098.1:c.38369C>G (TTN) | XP_024308866.1:p.Thr12790Ser | |
| XM_024453099.1:c.20132C>G (TTN) | XP_024308867.1:p.Thr6711Ser | |
| XM_024453100.1:c.9986C>G (TTN) | XP_024308868.1:p.Thr3329Ser |