Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985991G>A , CM000678.2:g.1985991G>A | GRCh38 |
| NC_000016.9:g.2035992G>A , CM000678.1:g.2035992G>A | GRCh37 |
| NC_000016.8:g.1975993G>A | NCBI36 |
| NG_016288.1:g.6843G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005262.3:c.581G>A MANE Select | NP_005253.3:p.Arg194His |
| ENST00000248114.7:c.581G>A MANE Select | ENSP00000248114.6:p.Arg194His |
| NM_005262.2:c.581G>A | NP_005253.3:p.Arg194His |
| ENST00000248114.6:c.581G>A | ENSP00000248114.6:p.Arg194His |
| ENST00000565658.1:n.738G>A | |
| ENST00000567719.1:c.356G>A | ENSP00000455885.1:p.Arg119His |
| ENST00000567719.2:c.356G>A | ENSP00000455885.1:p.Arg119His |
| ENST00000569451.1:c.*54G>A | ENSP00000456432.1:n.*54G>A |