Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36199933A>G , CM000680.2:g.36199933A>G | GRCh38 |
| NC_000018.9:g.33779896A>G , CM000680.1:g.33779896A>G | GRCh37 |
| NC_000018.8:g.32033894A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017947.4:c.550A>G MANE Select | NP_060417.4:p.Ser184Gly |
| ENST00000261326.6:c.550A>G MANE Select | ENSP00000261326.4:p.Ser184Gly |
| NM_017947.2:c.550A>G | NP_060417.2:p.Ser184Gly |
| ENST00000261326.5:c.550A>G | ENSP00000261326.4:p.Ser184Gly |