Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45108892C>T , CM000677.2:g.45108892C>T | GRCh38 |
| NC_000015.9:g.45401090C>T , CM000677.1:g.45401090C>T | GRCh37 |
| NC_000015.8:g.43188382C>T | NCBI36 |
| NG_009447.1:g.10270G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001363711.2:c.1295G>A MANE Select | NP_001350640.1:p.Arg432His |
| ENST00000389039.11:c.1295G>A MANE Select | ENSP00000373691.7:p.Arg432His |
| NM_001363711.1:c.1295G>A | NP_001350640.1:p.Arg432His |
| NM_014080.4:c.1295G>A | NP_054799.4:p.Arg432His |
| NM_014080.5:c.1295G>A | NP_054799.4:p.Arg432His |
| ENST00000389039.10:c.1295G>A | ENSP00000373691.6:p.Arg432His |
| ENST00000558383.1:n.2460G>A | |
| ENST00000603300.1:c.1295G>A | ENSP00000475084.1:p.Arg432His |
| XM_005254421.2:c.1295G>A | XP_005254478.1:p.Arg432His |