Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916228G= , CM000685.2:g.50916228G= | GRCh38 |
| NC_000023.10:g.50659228G= , CM000685.1:g.50659228G= | GRCh37 |
| NC_000023.9:g.50675968G= | NCBI36 |
| NG_012894.1:g.10445G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.800G= MANE Select | ENSP00000252677.3:p.Arg267= | |
| ENST00000252677.3:c.800G= | ENSP00000252677.3:p.Arg267= | |
| NM_005448.2:c.800G= MANE Select | NP_005439.2:p.Arg267= |