Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51862901G>A , CM000677.2:g.51862901G>A | GRCh38 |
| NC_000015.9:g.52155098G>A , CM000677.1:g.52155098G>A | GRCh37 |
| NC_000015.8:g.49942390G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308580.12:c.17G>A MANE Select | ENSP00000308753.7:p.Arg6His | |
| ENST00000308580.11:c.17G>A | ENSP00000308753.7:p.Arg6His | |
| ENST00000544199.5:c.17G>A | ENSP00000438909.1:p.Arg6His | |
| ENST00000558455.1:c.17G>A | ENSP00000454161.1:p.Arg6His | |
| NM_014547.4:c.17G>A | NP_055362.1:p.Arg6His | |
| XM_017022087.1:c.17G>A | XP_016877576.1:p.Arg6His | |
| XM_017022088.1:c.17G>A | XP_016877577.1:p.Arg6His | |
| NM_014547.5:c.17G>A MANE Select | NP_055362.1:p.Arg6His |