Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176970A= , CM000678.2:g.176970A= | GRCh38 |
| NC_000016.9:g.226969A= , CM000678.1:g.226969A= | GRCh37 |
| NC_000016.8:g.166969A= | NCBI36 |
| NG_000006.1:g.37833A= | |
| NG_059186.1:g.5320A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.137A= MANE Select | NP_000549.1:p.His46= |
| ENST00000320868.9:c.137A= MANE Select | ENSP00000322421.5:p.His46= |
| NM_000558.4:c.137A= | NP_000549.1:p.His46= |
| ENST00000397797.1:c.41A= | ENSP00000380899.1:p.His14= |
| ENST00000472694.1:n.273A= | |
| ENST00000487791.1:n.106A= |