Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42688269G>A , CM000665.2:g.42688269G>A | GRCh38 |
| NC_000003.11:g.42729761G>A , CM000665.1:g.42729761G>A | GRCh37 |
| NC_000003.10:g.42704765G>A | NCBI36 |
| NG_033035.1:g.7751G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152393.4:c.1280G>A MANE Select | NP_689606.2:p.Arg427His |
| ENST00000287777.5:c.1280G>A MANE Select | ENSP00000287777.4:p.Arg427His |
| NM_152393.3:c.1280G>A | NP_689606.2:p.Arg427His |
| ENST00000287777.4:c.1280G>A | ENSP00000287777.4:p.Arg427His |
| XM_005264866.2:c.1280G>A | XP_005264923.1:p.Arg427His |