Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346701A= , CM000674.2:g.76346701A= | GRCh38 |
| NC_000012.11:g.76740481A= , CM000674.1:g.76740481A= | GRCh37 |
| NC_000012.10:g.75264612A= | NCBI36 |
| NG_016357.1:g.6742T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.1284T= MANE Select | ENSP00000497413.1:p.Leu428= | |
| ENST00000393262.3:c.1284T= | ENSP00000376946.3:p.Leu428= | |
| NM_024685.3:c.1284T= | NP_078961.3:p.Leu428= | |
| NM_024685.4:c.1284T= MANE Select | NP_078961.3:p.Leu428= |