Linked Data
dbSNP Id:
rs1847543833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226269_5226270insC , CM000673.2:g.5226269_5226270insC | GRCh38 |
| NC_000011.9:g.5247499_5247500insC , CM000673.1:g.5247499_5247500insC | GRCh37 |
| NC_000011.8:g.5204075_5204076insC | NCBI36 |
| NG_000007.3:g.71346_71347insG | |
| NG_059281.1:g.5802_5803insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+307_315+308insG | ENSP00000494175.1:n.315+307_315+308insG | |
| ENST00000335295.4:c.315+307_315+308insG MANE Select | ENSP00000333994.3:n.315+307_315+308insG | |
| ENST00000475226.1:n.247+307_247+308insG | ||
| ENST00000485743.1:n.673_674insG | ||
| ENST00000633227.1:c.*131+307_*131+308insG | ENSP00000488004.1:n.*131+307_*131+308insG | |
| NM_000518.4:c.315+307_315+308insG | NP_000509.1:n.315+307_315+308insG | |
| NM_000518.5:c.315+307_315+308insG MANE Select | NP_000509.1:n.315+307_315+308insG |