Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.113399668C>T , CM000674.2:g.113399668C>T | GRCh38 |
| NC_000012.11:g.113837473C>T , CM000674.1:g.113837473C>T | GRCh37 |
| NC_000012.10:g.112321856C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006843.3:c.41G>A MANE Select | NP_006834.2:p.Arg14His |
| ENST00000257549.9:c.41G>A MANE Select | ENSP00000257549.4:p.Arg14His |
| NM_006843.2:c.41G>A | NP_006834.2:p.Arg14His |
| ENST00000257549.8:c.41G>A | ENSP00000257549.4:p.Arg14His |
| ENST00000546639.1:n.162G>A | |
| ENST00000546785.1:n.163G>A | |
| ENST00000547342.1:c.323G>A | ENSP00000449061.1:p.Arg108His |
| ENST00000552280.5:c.41G>A | ENSP00000449833.1:p.Arg14His |
| ENST00000553112.5:n.162G>A |