Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740155C= , CM000685.2:g.153740155C= | GRCh38 |
| NC_000023.10:g.153005609C= , CM000685.1:g.153005609C= | GRCh37 |
| NC_000023.9:g.152658803C= | NCBI36 |
| NG_009022.2:g.20288C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1552C= MANE Select | NP_000024.2:p.Arg518= |
| ENST00000218104.6:c.1552C= MANE Select | ENSP00000218104.3:p.Arg518= |
| NM_000033.3:c.1552C= | NP_000024.2:p.Arg518= |
| ENST00000218104.5:c.1552C= | ENSP00000218104.3:p.Arg518= |
| ENST00000443684.2:n.555C= | |
| XR_938507.1:n.2024C= | |
| XR_938507.2:n.2024C= |