Linked Data
ClinVar Variation Id:
96307
dbSNP Id:
rs186273940
ExAC:
2:179429612 A / G
gnomAD v2:
2-179429612-A-G
gnomAD v3:
2-178564885-A-G
gnomAD v4:
2-178564885-A-G
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564885A>G , CM000664.2:g.178564885A>G | GRCh38 |
| NC_000002.11:g.179429612A>G , CM000664.1:g.179429612A>G | GRCh37 |
| NC_000002.10:g.179137858A>G | NCBI36 |
| NG_011618.3:g.270918T>C , LRG_391:g.270918T>C | |
| NG_051363.1:g.47059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73543T>C (TTN) | ENSP00000343764.6:p.Ser24515Pro | |
| ENST00000342175.11:c.54628T>C (TTN) | ENSP00000340554.6:p.Ser18210Pro | |
| ENST00000359218.10:c.54427T>C (TTN) | ENSP00000352154.5:p.Ser18143Pro | |
| ENST00000342175.10:c.54628T>C (TTN) | ENSP00000340554.6:p.Ser18210Pro | |
| ENST00000342992.10:c.73543T>C (TTN) | ENSP00000343764.6:p.Ser24515Pro | |
| ENST00000359218.9:c.54427T>C (TTN) | ENSP00000352154.5:p.Ser18143Pro | |
| ENST00000460472.6:c.54052T>C (TTN) | ENSP00000434586.1:p.Ser18018Pro | |
| ENST00000589042.5:c.81247T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser27083Pro | |
| ENST00000591111.5:c.76324T>C (TTN) | ENSP00000465570.1:p.Ser25442Pro | |
| ENST00000615779.4:c.76324T>C (TTN) | ENSP00000483597.1:p.Ser25442Pro | |
| NM_001256850.1:c.76324T>C (TTN) | NP_001243779.1:p.Ser25442Pro | |
| NM_001267550.2:c.81247T>C (TTN) MANE Select | NP_001254479.2:p.Ser27083Pro | |
| NM_003319.4:c.54052T>C (TTN) | NP_003310.4:p.Ser18018Pro | |
| NM_133378.4:c.73543T>C (TTN) | NP_596869.4:p.Ser24515Pro | |
| NM_133432.3:c.54427T>C (TTN) | NP_597676.3:p.Ser18143Pro | |
| NM_133437.4:c.54628T>C (TTN) | NP_597681.4:p.Ser18210Pro | |
| NR_038271.1:n.447-6415A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-17687A>G (TTN-AS1) | ||
| XM_011511729.1:c.80344T>C (TTN) | XP_011510031.1:p.Ser26782Pro | |
| XM_011511730.1:c.54238T>C (TTN) | XP_011510032.1:p.Ser18080Pro | |
| XM_011511731.1:c.54097T>C (TTN) | XP_011510033.1:p.Ser18033Pro | |
| XM_017004819.1:c.80140T>C (TTN) | XP_016860308.1:p.Ser26714Pro | |
| XM_017004820.1:c.75538T>C (TTN) | XP_016860309.1:p.Ser25180Pro | |
| XM_017004821.1:c.75535T>C (TTN) | XP_016860310.1:p.Ser25179Pro | |
| XM_017004822.1:c.72577T>C (TTN) | XP_016860311.1:p.Ser24193Pro | |
| XM_017004823.1:c.54193T>C (TTN) | XP_016860312.1:p.Ser18065Pro | |
| XM_024453094.1:c.75688T>C (TTN) | XP_024308862.1:p.Ser25230Pro | |
| XM_024453095.1:c.75685T>C (TTN) | XP_024308863.1:p.Ser25229Pro | |
| XM_024453096.1:c.75118T>C (TTN) | XP_024308864.1:p.Ser25040Pro | |
| XM_024453097.1:c.72460T>C (TTN) | XP_024308865.1:p.Ser24154Pro | |
| XM_024453098.1:c.72379T>C (TTN) | XP_024308866.1:p.Ser24127Pro | |
| XM_024453099.1:c.54142T>C (TTN) | XP_024308867.1:p.Ser18048Pro | |
| XM_024453100.1:c.43996T>C (TTN) | XP_024308868.1:p.Ser14666Pro |