Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736379A>C , CM000685.2:g.153736379A>C | GRCh38 |
| NC_000023.10:g.153001833A>C , CM000685.1:g.153001833A>C | GRCh37 |
| NC_000023.9:g.152655027A>C | NCBI36 |
| NG_009022.2:g.16512A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1259A>C MANE Select | NP_000024.2:p.His420Pro |
| ENST00000218104.6:c.1259A>C MANE Select | ENSP00000218104.3:p.His420Pro |
| NM_000033.3:c.1259A>C | NP_000024.2:p.His420Pro |
| ENST00000218104.5:c.1259A>C | ENSP00000218104.3:p.His420Pro |
| ENST00000443684.2:n.262A>C | |
| XR_938507.1:n.1675A>C | |
| XR_938507.2:n.1675A>C |