Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218052C>T , CM000671.2:g.99218052C>T | GRCh38 |
| NC_000009.11:g.101980334C>T , CM000671.1:g.101980334C>T | GRCh37 |
| NC_000009.10:g.101020155C>T | NCBI36 |
| NG_008928.1:g.8913G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033087.4:c.1133G>A MANE Select | NP_149078.1:p.Arg378His |
| ENST00000476832.2:c.1133G>A MANE Select | ENSP00000417764.1:p.Arg378His |
| NM_033087.3:c.1133G>A | NP_149078.1:p.Arg378His |
| NR_024532.1:n.1362G>A | |
| NR_024532.2:n.1340G>A | |
| ENST00000238477.5:c.*875G>A | ENSP00000432675.2:n.*875G>A |
| ENST00000319033.7:c.854G>A | ENSP00000326609.6:p.Arg285His |
| ENST00000476832.1:c.1133G>A | ENSP00000417764.1:p.Arg378His |