Linked Data
ClinVar Variation Id:
586862
dbSNP Id:
rs373369136
ExAC:
2:179394830 C / G
gnomAD v2:
2-179394830-C-G
gnomAD v3:
2-178530103-C-G
gnomAD v4:
2-178530103-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530103C>G , CM000664.2:g.178530103C>G | GRCh38 |
| NC_000002.11:g.179394830C>G , CM000664.1:g.179394830C>G | GRCh37 |
| NC_000002.10:g.179103076C>G | NCBI36 |
| NG_011618.3:g.305700G>C , LRG_391:g.305700G>C | |
| NG_051363.1:g.12277C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98684G>C (TTN) | ENSP00000343764.6:p.Gly32895Ala | |
| ENST00000342175.11:c.79769G>C (TTN) | ENSP00000340554.6:p.Gly26590Ala | |
| ENST00000359218.10:c.79568G>C (TTN) | ENSP00000352154.5:p.Gly26523Ala | |
| ENST00000342175.10:c.79769G>C (TTN) | ENSP00000340554.6:p.Gly26590Ala | |
| ENST00000342992.10:c.98684G>C (TTN) | ENSP00000343764.6:p.Gly32895Ala | |
| ENST00000359218.9:c.79568G>C (TTN) | ENSP00000352154.5:p.Gly26523Ala | |
| ENST00000460472.6:c.79193G>C (TTN) | ENSP00000434586.1:p.Gly26398Ala | |
| ENST00000589042.5:c.106388G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly35463Ala | |
| ENST00000591111.5:c.101465G>C (TTN) | ENSP00000465570.1:p.Gly33822Ala | |
| ENST00000615779.4:c.101465G>C (TTN) | ENSP00000483597.1:p.Gly33822Ala | |
| NM_001256850.1:c.101465G>C (TTN) | NP_001243779.1:p.Gly33822Ala | |
| NM_001267550.2:c.106388G>C (TTN) MANE Select | NP_001254479.2:p.Gly35463Ala | |
| NM_003319.4:c.79193G>C (TTN) | NP_003310.4:p.Gly26398Ala | |
| NM_133378.4:c.98684G>C (TTN) | NP_596869.4:p.Gly32895Ala | |
| NM_133432.3:c.79568G>C (TTN) | NP_597676.3:p.Gly26523Ala | |
| NM_133437.4:c.79769G>C (TTN) | NP_597681.4:p.Gly26590Ala | |
| NR_038271.1:n.446+6467C>G (TTN-AS1) | ||
| NR_038272.1:n.220-5629C>G (TTN-AS1) | ||
| XM_011511729.1:c.105485G>C (TTN) | XP_011510031.1:p.Gly35162Ala | |
| XM_011511730.1:c.79379G>C (TTN) | XP_011510032.1:p.Gly26460Ala | |
| XM_011511731.1:c.79238G>C (TTN) | XP_011510033.1:p.Gly26413Ala | |
| XM_017004819.1:c.105281G>C (TTN) | XP_016860308.1:p.Gly35094Ala | |
| XM_017004820.1:c.100679G>C (TTN) | XP_016860309.1:p.Gly33560Ala | |
| XM_017004821.1:c.100676G>C (TTN) | XP_016860310.1:p.Gly33559Ala | |
| XM_017004822.1:c.97718G>C (TTN) | XP_016860311.1:p.Gly32573Ala | |
| XM_017004823.1:c.79334G>C (TTN) | XP_016860312.1:p.Gly26445Ala | |
| XM_024453094.1:c.100829G>C (TTN) | XP_024308862.1:p.Gly33610Ala | |
| XM_024453095.1:c.100826G>C (TTN) | XP_024308863.1:p.Gly33609Ala | |
| XM_024453096.1:c.100259G>C (TTN) | XP_024308864.1:p.Gly33420Ala | |
| XM_024453097.1:c.97601G>C (TTN) | XP_024308865.1:p.Gly32534Ala | |
| XM_024453098.1:c.97520G>C (TTN) | XP_024308866.1:p.Gly32507Ala | |
| XM_024453099.1:c.79283G>C (TTN) | XP_024308867.1:p.Gly26428Ala | |
| XM_024453100.1:c.69137G>C (TTN) | XP_024308868.1:p.Gly23046Ala |