Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94487730G>A , CM000663.2:g.94487730G>A | GRCh38 |
| NC_000001.10:g.94953286G>A , CM000663.1:g.94953286G>A | GRCh37 |
| NC_000001.9:g.94725874G>A | NCBI36 |
| NG_008865.1:g.74354G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002858.4:c.1004G>A MANE Select | NP_002849.1:p.Arg335His |
| ENST00000370214.9:c.1004G>A MANE Select | ENSP00000359233.4:p.Arg335His |
| NM_002858.3:c.1004G>A | NP_002849.1:p.Arg335His |
| ENST00000370214.8:c.1004G>A | ENSP00000359233.4:p.Arg335His |
| ENST00000484213.1:n.1854G>A | |
| ENST00000493416.5:n.562G>A | |
| ENST00000647998.2:c.1004G>A | ENSP00000497921.2:p.Arg335His |
| XM_005271089.2:c.911G>A | XP_005271146.1:p.Arg304His |
| XM_006710802.2:c.1076G>A | XP_006710865.2:p.Arg359His |
| XM_011541877.1:c.68G>A | XP_011540179.1:p.Arg23His |