Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29250258G>A , CM000679.2:g.29250258G>A | GRCh38 |
| NC_000017.10:g.27577276G>A , CM000679.1:g.27577276G>A | GRCh37 |
| NC_000017.9:g.24601402G>A | NCBI36 |
| NG_008037.1:g.8402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225387.8:c.173G>A MANE Select | ENSP00000225387.3:p.Arg58His | |
| ENST00000225387.7:c.173G>A | ENSP00000225387.3:p.Arg58His | |
| ENST00000484605.1:c.163G>A | ||
| NM_005208.4:c.173G>A | NP_005199.2:p.Arg58His | |
| XM_017024198.1:c.476G>A | XP_016879687.1:p.Arg159His | |
| NM_005208.5:c.173G>A MANE Select | NP_005199.2:p.Arg58His |