Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177332A= , CM000678.2:g.177332A= | GRCh38 |
| NC_000016.9:g.227331A= , CM000678.1:g.227331A= | GRCh37 |
| NC_000016.8:g.167331A= | NCBI36 |
| NG_000006.1:g.38195A= | |
| NG_059186.1:g.5682A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.350A= MANE Select | NP_000549.1:p.Glu117= |
| ENST00000320868.9:c.350A= MANE Select | ENSP00000322421.5:p.Glu117= |
| NM_000558.4:c.350A= | NP_000549.1:p.Glu117= |
| ENST00000397797.1:c.254A= | ENSP00000380899.1:p.Glu85= |
| ENST00000472694.1:n.486A= |