Linked Data
ClinVar Variation Id:
47244
dbSNP Id:
rs397517667
ExAC:
2:179445189 A / G
gnomAD v2:
2-179445189-A-G
gnomAD v3:
2-178580462-A-G
gnomAD v4:
2-178580462-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580462A>G , CM000664.2:g.178580462A>G | GRCh38 |
| NC_000002.11:g.179445189A>G , CM000664.1:g.179445189A>G | GRCh37 |
| NC_000002.10:g.179153435A>G | NCBI36 |
| NG_011618.3:g.255341T>C , LRG_391:g.255341T>C | |
| NG_051363.1:g.62636A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59213T>C (TTN) | ENSP00000343764.6:p.Ile19738Thr | |
| ENST00000342175.11:c.40298T>C (TTN) | ENSP00000340554.6:p.Ile13433Thr | |
| ENST00000359218.10:c.40097T>C (TTN) | ENSP00000352154.5:p.Ile13366Thr | |
| ENST00000342175.10:c.40298T>C (TTN) | ENSP00000340554.6:p.Ile13433Thr | |
| ENST00000342992.10:c.59213T>C (TTN) | ENSP00000343764.6:p.Ile19738Thr | |
| ENST00000359218.9:c.40097T>C (TTN) | ENSP00000352154.5:p.Ile13366Thr | |
| ENST00000460472.6:c.39722T>C (TTN) | ENSP00000434586.1:p.Ile13241Thr | |
| ENST00000589042.5:c.66917T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile22306Thr | |
| ENST00000591111.5:c.61994T>C (TTN) | ENSP00000465570.1:p.Ile20665Thr | |
| ENST00000615779.4:c.61994T>C (TTN) | ENSP00000483597.1:p.Ile20665Thr | |
| NM_001256850.1:c.61994T>C (TTN) | NP_001243779.1:p.Ile20665Thr | |
| NM_001267550.2:c.66917T>C (TTN) MANE Select | NP_001254479.2:p.Ile22306Thr | |
| NM_003319.4:c.39722T>C (TTN) | NP_003310.4:p.Ile13241Thr | |
| NM_133378.4:c.59213T>C (TTN) | NP_596869.4:p.Ile19738Thr | |
| NM_133432.3:c.40097T>C (TTN) | NP_597676.3:p.Ile13366Thr | |
| NM_133437.4:c.40298T>C (TTN) | NP_597681.4:p.Ile13433Thr | |
| NR_038271.1:n.596+9013A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-2110A>G (TTN-AS1) | ||
| XM_011511729.1:c.66014T>C (TTN) | XP_011510031.1:p.Ile22005Thr | |
| XM_011511730.1:c.39908T>C (TTN) | XP_011510032.1:p.Ile13303Thr | |
| XM_011511731.1:c.39767T>C (TTN) | XP_011510033.1:p.Ile13256Thr | |
| XM_017004819.1:c.65810T>C (TTN) | XP_016860308.1:p.Ile21937Thr | |
| XM_017004820.1:c.61208T>C (TTN) | XP_016860309.1:p.Ile20403Thr | |
| XM_017004821.1:c.61205T>C (TTN) | XP_016860310.1:p.Ile20402Thr | |
| XM_017004822.1:c.58247T>C (TTN) | XP_016860311.1:p.Ile19416Thr | |
| XM_017004823.1:c.39863T>C (TTN) | XP_016860312.1:p.Ile13288Thr | |
| XM_024453094.1:c.61358T>C (TTN) | XP_024308862.1:p.Ile20453Thr | |
| XM_024453095.1:c.61355T>C (TTN) | XP_024308863.1:p.Ile20452Thr | |
| XM_024453096.1:c.60788T>C (TTN) | XP_024308864.1:p.Ile20263Thr | |
| XM_024453097.1:c.58130T>C (TTN) | XP_024308865.1:p.Ile19377Thr | |
| XM_024453098.1:c.58049T>C (TTN) | XP_024308866.1:p.Ile19350Thr | |
| XM_024453099.1:c.39812T>C (TTN) | XP_024308867.1:p.Ile13271Thr | |
| XM_024453100.1:c.29666T>C (TTN) | XP_024308868.1:p.Ile9889Thr |