Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12108005G>A , CM000672.2:g.12108005G>A | GRCh38 |
| NC_000010.10:g.12150004G>A , CM000672.1:g.12150004G>A | GRCh37 |
| NC_000010.9:g.12190010G>A | NCBI36 |
| NG_033248.1:g.44089G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.2144G>A MANE Select | NP_061176.4:p.Arg715His |
| ENST00000263035.9:c.2144G>A MANE Select | ENSP00000263035.4:p.Arg715His |
| NM_018706.6:c.2144G>A | NP_061176.3:p.Arg715His |
| ENST00000263035.8:c.2144G>A | ENSP00000263035.4:p.Arg715His |
| ENST00000448829.1:c.647G>A |