Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157208896G>A , CM000667.2:g.157208896G>A | GRCh38 |
| NC_000005.9:g.156635907G>A , CM000667.1:g.156635907G>A | GRCh37 |
| NC_000005.8:g.156568485G>A | NCBI36 |
| NG_016276.1:g.33001G>A , LRG_189:g.33001G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005546.4:c.146G>A MANE Select | NP_005537.3:p.Arg49His |
| ENST00000422843.8:c.146G>A MANE Select | ENSP00000398655.4:p.Arg49His |
| NM_005546.3:c.146G>A , LRG_189t1:c.146G>A | NP_005537.3:p.Arg49His |
| ENST00000422843.7:c.146G>A | ENSP00000398655.3:p.Arg49His |
| ENST00000517779.1:c.146G>A | ENSP00000431054.1:p.Arg49His |
| ENST00000519402.5:n.281G>A | |
| ENST00000520555.5:n.284G>A | |
| ENST00000521769.5:c.-230G>A | ENSP00000430327.1:n.-230G>A |
| ENST00000696962.1:c.146G>A | ENSP00000513001.1:p.Arg49His |