Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48659493G>A , CM000665.2:g.48659493G>A | GRCh38 |
| NC_000003.11:g.48696926G>A , CM000665.1:g.48696926G>A | GRCh37 |
| NC_000003.10:g.48671930G>A | NCBI36 |
| NG_034061.1:g.8423C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001407.3:c.3142C>T MANE Select | NP_001398.2:p.Arg1048Trp |
| ENST00000164024.5:c.3142C>T MANE Select | ENSP00000164024.4:p.Arg1048Trp |
| NM_001407.2:c.3142C>T | NP_001398.2:p.Arg1048Trp |
| ENST00000164024.4:c.3142C>T | ENSP00000164024.4:p.Arg1048Trp |