Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180654792A>C , CM000665.2:g.180654792A>C | GRCh38 |
| NC_000003.11:g.180372580A>C , CM000665.1:g.180372580A>C | GRCh37 |
| NC_000003.10:g.181855274A>C | NCBI36 |
| NG_029581.1:g.29704T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.900T>G MANE Select | ENSP00000417960.2:p.His300Gln | |
| ENST00000650641.1:n.818-2526T>G | ||
| ENST00000650889.1:n.1072T>G | ||
| ENST00000651046.1:c.739-2526T>G | ENSP00000499175.1:n.739-2526T>G | |
| ENST00000651818.1:n.881-2526T>G | ||
| ENST00000652024.1:n.830-2526T>G | ||
| ENST00000652408.1:n.1037T>G | ||
| ENST00000442201.6:c.900T>G | ENSP00000405708.2:p.His300Gln | |
| ENST00000476379.5:c.900T>G | ENSP00000417960.1:p.His300Gln | |
| NM_181426.1:c.900T>G | NP_852091.1:p.His300Gln | |
| NM_181426.2:c.900T>G MANE Select | NP_852091.1:p.His300Gln |