Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25203855G>A , CM000684.2:g.25203855G>A | GRCh38 |
| NC_000022.10:g.25599822G>A , CM000684.1:g.25599822G>A | GRCh37 |
| NC_000022.9:g.23929822G>A | NCBI36 |
| NG_009828.1:g.8998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215855.7:c.287G>A MANE Select | ENSP00000215855.2:p.Arg96His | |
| ENST00000215855.6:c.287G>A | ENSP00000215855.2:p.Arg96His | |
| ENST00000404334.1:c.287G>A | ENSP00000386123.1:p.Arg96His | |
| NM_004076.4:c.287G>A | NP_004067.1:p.Arg96His | |
| XM_011529902.1:c.455G>A | XP_011528204.1:p.Arg152His | |
| XM_011529902.3:c.455G>A | XP_011528204.1:p.Arg152His | |
| XM_017028599.2:c.455G>A | XP_016884088.1:p.Arg152His | |
| NM_004076.5:c.287G>A MANE Select | NP_004067.1:p.Arg96His |