Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725556A>C , CM000685.2:g.153725556A>C | GRCh38 |
| NC_000023.10:g.152991011A>C , CM000685.1:g.152991011A>C | GRCh37 |
| NC_000023.9:g.152644205A>C | NCBI36 |
| NG_009022.2:g.5689A>C | |
| NG_023231.1:g.4191T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.290A>C MANE Select | NP_000024.2:p.His97Pro |
| ENST00000218104.6:c.290A>C MANE Select | ENSP00000218104.3:p.His97Pro |
| NM_000033.3:c.290A>C | NP_000024.2:p.His97Pro |
| ENST00000218104.5:c.290A>C | ENSP00000218104.3:p.His97Pro |
| XR_938507.1:n.706A>C | |
| XR_938507.2:n.706A>C |