Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63972790G>A , CM000679.2:g.63972790G>A | GRCh38 |
| NC_000017.10:g.62050150G>A , CM000679.1:g.62050150G>A | GRCh37 |
| NC_000017.9:g.59403882G>A | NCBI36 |
| NG_011699.1:g.5129C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.52C>T MANE Select | NP_000325.4:p.Arg18Cys |
| ENST00000435607.3:c.52C>T MANE Select | ENSP00000396320.1:p.Arg18Cys |
| ENST00000578147.5:c.52C>T | ENSP00000463963.1:p.Arg18Cys |
| XM_005257566.3:c.52C>T | XP_005257623.1:p.Arg18Cys |