Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94037276C= , CM000663.2:g.94037276C= | GRCh38 |
| NC_000001.10:g.94502832C= , CM000663.1:g.94502832C= | GRCh37 |
| NC_000001.9:g.94275420C= | NCBI36 |
| NG_009073.1:g.88874G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.3682G= MANE Select | NP_000341.2:p.Glu1228= |
| ENST00000370225.4:c.3682G= MANE Select | ENSP00000359245.3:p.Glu1228= |
| NM_000350.2:c.3682G= | NP_000341.2:p.Glu1228= |
| ENST00000370225.3:c.3682G= | ENSP00000359245.3:p.Glu1228= |
| ENST00000536513.5:c.58G= | ENSP00000439707.2:p.Glu20= |