Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86510849A= , CM000678.2:g.86510849A= | GRCh38 |
| NC_000016.9:g.86544455A= , CM000678.1:g.86544455A= | GRCh37 |
| NC_000016.8:g.85101956A= | NCBI36 |
| NG_016273.1:g.5323A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.280A= MANE Select | NP_001442.2:p.Asn94= |
| ENST00000262426.6:c.280A= MANE Select | ENSP00000262426.4:p.Asn94= |
| NM_001451.2:c.280A= | NP_001442.2:p.Asn94= |
| ENST00000262426.5:c.280A= | ENSP00000262426.4:p.Asn94= |