Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.67056063C>G , CM000679.2:g.67056063C>G | GRCh38 |
| NC_000017.10:g.65052179C>G , CM000679.1:g.65052179C>G | GRCh37 |
| NC_000017.9:g.62482641C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000727.4:c.461C>G MANE Select | NP_000718.1:p.Ser154Trp |
| ENST00000226021.5:c.461C>G MANE Select | ENSP00000226021.3:p.Ser154Trp |
| NM_000727.3:c.461C>G | NP_000718.1:p.Ser154Trp |
| ENST00000226021.4:c.461C>G | ENSP00000226021.3:p.Ser154Trp |