Linked Data
dbSNP Id:
rs765009173
ExAC:
11:47603922 T / G
gnomAD v2:
11-47603922-T-G
gnomAD v4:
11-47582370-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582370T>G , CM000673.2:g.47582370T>G | GRCh38 |
| NC_000011.9:g.47603922T>G , CM000673.1:g.47603922T>G | GRCh37 |
| NC_000011.8:g.47560498T>G | NCBI36 |
| NG_011946.1:g.8361T>G | |
| NG_011946.2:g.8361T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.529T>G MANE Select | ENSP00000263774.4:p.Phe177Val | |
| ENST00000531351.2:n.1724T>G | ||
| ENST00000677462.1:n.3003T>G | ||
| ENST00000678975.1:n.2786T>G | ||
| ENST00000263774.8:c.529T>G | ENSP00000263774.4:p.Phe177Val | |
| ENST00000524568.1:n.632T>G | ||
| ENST00000525212.1:n.184T>G | ||
| ENST00000525378.5:n.467T>G | ||
| ENST00000527178.1:n.129T>G | ||
| ENST00000533507.5:n.1423T>G | ||
| NM_004551.2:c.529T>G | NP_004542.1:p.Phe177Val | |
| NM_004551.3:c.529T>G MANE Select | NP_004542.1:p.Phe177Val |