Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7509592G>A , CM000679.2:g.7509592G>A | GRCh38 |
| NC_000017.10:g.7412911G>A , CM000679.1:g.7412911G>A | GRCh37 |
| NC_000017.9:g.7353635G>A | NCBI36 |
| NG_027747.1:g.30214G>A | |
| NG_027747.2:g.30214G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.3773G>A MANE Select | NP_000928.1:p.Arg1258His |
| NM_000937.4:c.3773G>A | NP_000928.1:p.Arg1258His |
| ENST00000573603.1:n.313G>A | |
| ENST00000617998.4:c.3773G>A | ENSP00000480158.1:p.Arg1258His |
| ENST00000617998.6:n.4172G>A | |
| ENST00000621442.4:c.3773G>A | ENSP00000483957.1:p.Arg1258His |
| ENST00000674977.2:c.3773G>A | ENSP00000502190.2:p.Arg1258His |