Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.97960908G>A , CM000677.2:g.97960908G>A | GRCh38 |
| NC_000015.9:g.98504138G>A , CM000677.1:g.98504138G>A | GRCh37 |
| NC_000015.8:g.96305142G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268042.7:c.47G>A MANE Select | ENSP00000268042.6:p.Arg16His | |
| ENST00000268042.6:c.47G>A | ENSP00000268042.6:p.Arg16His | |
| NM_183376.2:c.47G>A | NP_899232.2:p.Arg16His | |
| NM_183376.3:c.47G>A MANE Select | NP_899232.2:p.Arg16His |