Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347712G= , CM000674.2:g.76347712G= | GRCh38 |
| NC_000012.11:g.76741492G= , CM000674.1:g.76741492G= | GRCh37 |
| NC_000012.10:g.75265623G= | NCBI36 |
| NG_016357.1:g.5731C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024685.4:c.273C= MANE Select | NP_078961.3:p.Cys91= |
| ENST00000650064.2:c.273C= MANE Select | ENSP00000497413.1:p.Cys91= |
| NM_024685.3:c.273C= | NP_078961.3:p.Cys91= |
| ENST00000393262.3:c.273C= | ENSP00000376946.3:p.Cys91= |