Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981420T>G , CM000674.2:g.48981420T>G | GRCh38 |
| NC_000012.11:g.49375203T>G , CM000674.1:g.49375203T>G | GRCh37 |
| NC_000012.10:g.47661470T>G | NCBI36 |
| NG_033141.1:g.7968T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.893T>G MANE Select | NP_005421.1:p.Phe298Cys |
| ENST00000293549.4:c.893T>G MANE Select | ENSP00000293549.3:p.Phe298Cys |
| NM_005430.3:c.893T>G | NP_005421.1:p.Phe298Cys |
| ENST00000293549.3:c.893T>G | ENSP00000293549.3:p.Phe298Cys |
| ENST00000613114.4:c.860T>G | ENSP00000481240.1:p.Phe287Cys |