Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347099C= , CM000674.2:g.76347099C= | GRCh38 |
| NC_000012.11:g.76740879C= , CM000674.1:g.76740879C= | GRCh37 |
| NC_000012.10:g.75265010C= | NCBI36 |
| NG_016357.1:g.6344G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.886G= MANE Select | ENSP00000497413.1:p.Ala296= | |
| ENST00000393262.3:c.886G= | ENSP00000376946.3:p.Ala296= | |
| NM_024685.3:c.886G= | NP_078961.3:p.Ala296= | |
| NM_024685.4:c.886G= MANE Select | NP_078961.3:p.Ala296= |