Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725412C>A , CM000685.2:g.153725412C>A | GRCh38 |
| NC_000023.10:g.152990867C>A , CM000685.1:g.152990867C>A | GRCh37 |
| NC_000023.9:g.152644061C>A | NCBI36 |
| NG_009022.2:g.5545C>A | |
| NG_023231.1:g.4335G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.146C>A MANE Select | ENSP00000218104.3:p.Pro49His | |
| ENST00000218104.5:c.146C>A | ENSP00000218104.3:p.Pro49His | |
| NM_000033.3:c.146C>A | NP_000024.2:p.Pro49His | |
| XR_938507.1:n.562C>A | ||
| XR_938507.2:n.562C>A | ||
| NM_000033.4:c.146C>A MANE Select | NP_000024.2:p.Pro49His |