Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755085T= , CM000677.2:g.74755085T= | GRCh38 |
| NG_008431.2:g.37544T= | |
| NG_061543.1:g.11241T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1548T= MANE Select | ENSP00000342007.4:p.Asn516= | |
| ENST00000343932.4:c.1548T= | ENSP00000342007.4:p.Asn516= | |
| NM_000761.4:c.1548T= | NP_000752.2:p.Asn516= | |
| NM_000761.5:c.1548T= MANE Select | NP_000752.2:p.Asn516= |