Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61404632G>A , CM000679.2:g.61404632G>A | GRCh38 |
| NC_000017.10:g.59481993G>A , CM000679.1:g.59481993G>A | GRCh37 |
| NC_000017.9:g.56836775G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240328.4:c.914G>A MANE Select | ENSP00000240328.3:p.Arg305His | |
| ENST00000240328.3:c.914G>A | ENSP00000240328.3:p.Arg305His | |
| ENST00000419047.5:c.*451G>A | ENSP00000404781.1:n.*451G>A | |
| ENST00000477081.1:n.726G>A | ||
| NM_005994.3:c.914G>A | NP_005985.3:p.Arg305His | |
| XM_011525158.1:c.914G>A | XP_011523460.1:p.Arg305His | |
| XM_011525159.1:c.236G>A | XP_011523461.1:p.Arg79His | |
| NM_005994.4:c.914G>A MANE Select | NP_005985.3:p.Arg305His |