Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55097751C>T , CM000666.2:g.55097751C>T | GRCh38 |
| NC_000004.11:g.55963918C>T , CM000666.1:g.55963918C>T | GRCh37 |
| NC_000004.10:g.55658675C>T | NCBI36 |
| NG_012004.1:g.32845G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.2525G>A MANE Select | NP_002244.1:p.Arg842His |
| ENST00000263923.5:c.2525G>A MANE Select | ENSP00000263923.4:p.Arg842His |
| NM_002253.2:c.2525G>A | NP_002244.1:p.Arg842His |
| NM_002253.3:c.2525G>A | NP_002244.1:p.Arg842His |
| ENST00000263923.4:c.2525G>A | ENSP00000263923.4:p.Arg842His |
| ENST00000647068.1:n.2538G>A |