Linked Data
ClinVar Variation Id:
222864
dbSNP Id:
rs779948923
ExAC:
2:179395407 A / C
gnomAD v2:
2-179395407-A-C
gnomAD v4:
2-178530680-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530680A>C , CM000664.2:g.178530680A>C | GRCh38 |
| NC_000002.11:g.179395407A>C , CM000664.1:g.179395407A>C | GRCh37 |
| NC_000002.10:g.179103653A>C | NCBI36 |
| NG_011618.3:g.305123T>G , LRG_391:g.305123T>G | |
| NG_051363.1:g.12854A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98231T>G (TTN) | ENSP00000343764.6:p.Leu32744Ter | |
| ENST00000342175.11:c.79316T>G (TTN) | ENSP00000340554.6:p.Leu26439Ter | |
| ENST00000359218.10:c.79115T>G (TTN) | ENSP00000352154.5:p.Leu26372Ter | |
| ENST00000342175.10:c.79316T>G (TTN) | ENSP00000340554.6:p.Leu26439Ter | |
| ENST00000342992.10:c.98231T>G (TTN) | ENSP00000343764.6:p.Leu32744Ter | |
| ENST00000359218.9:c.79115T>G (TTN) | ENSP00000352154.5:p.Leu26372Ter | |
| ENST00000460472.6:c.78740T>G (TTN) | ENSP00000434586.1:p.Leu26247Ter | |
| ENST00000589042.5:c.105935T>G (TTN) MANE Select | ENSP00000467141.1:p.Leu35312Ter | |
| ENST00000591111.5:c.101012T>G (TTN) | ENSP00000465570.1:p.Leu33671Ter | |
| ENST00000615779.4:c.101012T>G (TTN) | ENSP00000483597.1:p.Leu33671Ter | |
| NM_001256850.1:c.101012T>G (TTN) | NP_001243779.1:p.Leu33671Ter | |
| NM_001267550.2:c.105935T>G (TTN) MANE Select | NP_001254479.2:p.Leu35312Ter | |
| NM_003319.4:c.78740T>G (TTN) | NP_003310.4:p.Leu26247Ter | |
| NM_133378.4:c.98231T>G (TTN) | NP_596869.4:p.Leu32744Ter | |
| NM_133432.3:c.79115T>G (TTN) | NP_597676.3:p.Leu26372Ter | |
| NM_133437.4:c.79316T>G (TTN) | NP_597681.4:p.Leu26439Ter | |
| NR_038271.1:n.446+7044A>C (TTN-AS1) | ||
| NR_038272.1:n.220-5052A>C (TTN-AS1) | ||
| XM_011511729.1:c.105032T>G (TTN) | XP_011510031.1:p.Leu35011Ter | |
| XM_011511730.1:c.78926T>G (TTN) | XP_011510032.1:p.Leu26309Ter | |
| XM_011511731.1:c.78785T>G (TTN) | XP_011510033.1:p.Leu26262Ter | |
| XM_017004819.1:c.104828T>G (TTN) | XP_016860308.1:p.Leu34943Ter | |
| XM_017004820.1:c.100226T>G (TTN) | XP_016860309.1:p.Leu33409Ter | |
| XM_017004821.1:c.100223T>G (TTN) | XP_016860310.1:p.Leu33408Ter | |
| XM_017004822.1:c.97265T>G (TTN) | XP_016860311.1:p.Leu32422Ter | |
| XM_017004823.1:c.78881T>G (TTN) | XP_016860312.1:p.Leu26294Ter | |
| XM_024453094.1:c.100376T>G (TTN) | XP_024308862.1:p.Leu33459Ter | |
| XM_024453095.1:c.100373T>G (TTN) | XP_024308863.1:p.Leu33458Ter | |
| XM_024453096.1:c.99806T>G (TTN) | XP_024308864.1:p.Leu33269Ter | |
| XM_024453097.1:c.97148T>G (TTN) | XP_024308865.1:p.Leu32383Ter | |
| XM_024453098.1:c.97067T>G (TTN) | XP_024308866.1:p.Leu32356Ter | |
| XM_024453099.1:c.78830T>G (TTN) | XP_024308867.1:p.Leu26277Ter | |
| XM_024453100.1:c.68684T>G (TTN) | XP_024308868.1:p.Leu22895Ter |