Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43060063C>G , CM000677.2:g.43060063C>G | GRCh38 |
| NC_000015.9:g.43352261C>G , CM000677.1:g.43352261C>G | GRCh37 |
| NC_000015.8:g.41139553C>G | NCBI36 |
| NG_012182.1:g.51026G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.850G>C MANE Select | ENSP00000290650.4:p.Glu284Gln | |
| ENST00000290650.8:c.850G>C | ENSP00000290650.4:p.Glu284Gln | |
| ENST00000546274.6:c.850G>C | ENSP00000477932.1:p.Glu284Gln | |
| ENST00000563239.1:c.*202+10836G>C | ENSP00000456502.1:n.*202+10836G>C | |
| NM_174916.2:c.850G>C | NP_777576.1:p.Glu284Gln | |
| NM_174916.3:c.850G>C MANE Select | NP_777576.1:p.Glu284Gln |