Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48641910C>T , CM000665.2:g.48641910C>T | GRCh38 |
| NC_000003.11:g.48679343C>T , CM000665.1:g.48679343C>T | GRCh37 |
| NC_000003.10:g.48654347C>T | NCBI36 |
| NG_034061.1:g.26006G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001407.3:c.8765G>A MANE Select | NP_001398.2:p.Arg2922His |
| ENST00000164024.5:c.8765G>A MANE Select | ENSP00000164024.4:p.Arg2922His |
| NM_001407.2:c.8765G>A | NP_001398.2:p.Arg2922His |
| ENST00000164024.4:c.8765G>A | ENSP00000164024.4:p.Arg2922His |
| ENST00000461362.5:n.853G>A | |
| ENST00000470999.1:n.228G>A | |
| ENST00000498057.1:n.1753G>A |