Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916348A>G , CM000685.2:g.50916348A>G | GRCh38 |
| NC_000023.10:g.50659348A>G , CM000685.1:g.50659348A>G | GRCh37 |
| NC_000023.9:g.50676088A>G | NCBI36 |
| NG_012894.1:g.10565A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005448.2:c.920A>G MANE Select | NP_005439.2:p.His307Arg |
| ENST00000252677.4:c.920A>G MANE Select | ENSP00000252677.3:p.His307Arg |
| ENST00000252677.3:c.920A>G | ENSP00000252677.3:p.His307Arg |