Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52807731C>T , CM000674.2:g.52807731C>T | GRCh38 |
| NC_000012.11:g.53201515C>T , CM000674.1:g.53201515C>T | GRCh37 |
| NC_000012.10:g.51487782C>T | NCBI36 |
| NG_007380.1:g.11821G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002272.4:c.1259G>A MANE Select | NP_002263.3:p.Arg420His |
| ENST00000551956.2:c.1259G>A MANE Select | ENSP00000448220.1:p.Arg420His |
| NM_002272.3:c.1259G>A | NP_002263.3:p.Arg420His |
| ENST00000548097.5:c.*771G>A | ENSP00000449755.1:n.*771G>A |
| ENST00000551956.1:c.1259G>A | ENSP00000448220.1:p.Arg420His |