Linked Data
ClinVar Variation Id:
96313
ClinVar RCV Id:
RCV000154901
RCV000232949
RCV000619471
RCV000852798
RCV001128962
RCV001128958
RCV001128959
RCV001128960
RCV001128961
RCV001811390
RCV003486645
dbSNP Id:
rs139506970
ExAC:
2:179419366 T / C
gnomAD v2:
2-179419366-T-C
gnomAD v3:
2-178554639-T-C
gnomAD v4:
2-178554639-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554639T>C , CM000664.2:g.178554639T>C | GRCh38 |
| NC_000002.11:g.179419366T>C , CM000664.1:g.179419366T>C | GRCh37 |
| NC_000002.10:g.179127612T>C | NCBI36 |
| NG_011618.3:g.281164A>G , LRG_391:g.281164A>G | |
| NG_051363.1:g.36813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81004A>G (TTN) | ENSP00000343764.6:p.Ile27002Val | |
| ENST00000342175.11:c.62089A>G (TTN) | ENSP00000340554.6:p.Ile20697Val | |
| ENST00000359218.10:c.61888A>G (TTN) | ENSP00000352154.5:p.Ile20630Val | |
| ENST00000342175.10:c.62089A>G (TTN) | ENSP00000340554.6:p.Ile20697Val | |
| ENST00000342992.10:c.81004A>G (TTN) | ENSP00000343764.6:p.Ile27002Val | |
| ENST00000359218.9:c.61888A>G (TTN) | ENSP00000352154.5:p.Ile20630Val | |
| ENST00000460472.6:c.61513A>G (TTN) | ENSP00000434586.1:p.Ile20505Val | |
| ENST00000589042.5:c.88708A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile29570Val | |
| ENST00000591111.5:c.83785A>G (TTN) | ENSP00000465570.1:p.Ile27929Val | |
| ENST00000615779.4:c.83785A>G (TTN) | ENSP00000483597.1:p.Ile27929Val | |
| NM_001256850.1:c.83785A>G (TTN) | NP_001243779.1:p.Ile27929Val | |
| NM_001267550.2:c.88708A>G (TTN) MANE Select | NP_001254479.2:p.Ile29570Val | |
| NM_003319.4:c.61513A>G (TTN) | NP_003310.4:p.Ile20505Val | |
| NM_133378.4:c.81004A>G (TTN) | NP_596869.4:p.Ile27002Val | |
| NM_133432.3:c.61888A>G (TTN) | NP_597676.3:p.Ile20630Val | |
| NM_133437.4:c.62089A>G (TTN) | NP_597681.4:p.Ile20697Val | |
| NR_038271.1:n.447-16661T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+12278T>C (TTN-AS1) | ||
| XM_011511729.1:c.87805A>G (TTN) | XP_011510031.1:p.Ile29269Val | |
| XM_011511730.1:c.61699A>G (TTN) | XP_011510032.1:p.Ile20567Val | |
| XM_011511731.1:c.61558A>G (TTN) | XP_011510033.1:p.Ile20520Val | |
| XM_017004819.1:c.87601A>G (TTN) | XP_016860308.1:p.Ile29201Val | |
| XM_017004820.1:c.82999A>G (TTN) | XP_016860309.1:p.Ile27667Val | |
| XM_017004821.1:c.82996A>G (TTN) | XP_016860310.1:p.Ile27666Val | |
| XM_017004822.1:c.80038A>G (TTN) | XP_016860311.1:p.Ile26680Val | |
| XM_017004823.1:c.61654A>G (TTN) | XP_016860312.1:p.Ile20552Val | |
| XM_024453094.1:c.83149A>G (TTN) | XP_024308862.1:p.Ile27717Val | |
| XM_024453095.1:c.83146A>G (TTN) | XP_024308863.1:p.Ile27716Val | |
| XM_024453096.1:c.82579A>G (TTN) | XP_024308864.1:p.Ile27527Val | |
| XM_024453097.1:c.79921A>G (TTN) | XP_024308865.1:p.Ile26641Val | |
| XM_024453098.1:c.79840A>G (TTN) | XP_024308866.1:p.Ile26614Val | |
| XM_024453099.1:c.61603A>G (TTN) | XP_024308867.1:p.Ile20535Val | |
| XM_024453100.1:c.51457A>G (TTN) | XP_024308868.1:p.Ile17153Val |