Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346122G>A , CM000674.2:g.76346122G>A | GRCh38 |
| NC_000012.11:g.76739902G>A , CM000674.1:g.76739902G>A | GRCh37 |
| NC_000012.10:g.75264033G>A | NCBI36 |
| NG_016357.1:g.7321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1863C>T MANE Select | ENSP00000497413.1:p.Cys621= | |
| ENST00000393262.3:c.1863C>T | ENSP00000376946.3:p.Cys621= | |
| NM_024685.3:c.1863C>T | NP_078961.3:p.Cys621= | |
| NM_024685.4:c.1863C>T MANE Select | NP_078961.3:p.Cys621= |