Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454341G= , CM000679.2:g.7454341G= | GRCh38 |
| NC_000017.10:g.7357660G= , CM000679.1:g.7357660G= | GRCh37 |
| NC_000017.9:g.7298384G= | NCBI36 |
| NG_008026.1:g.14255G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000747.3:c.865G= MANE Select | NP_000738.2:p.Val289= |
| ENST00000306071.7:c.865G= MANE Select | ENSP00000304290.2:p.Val289= |
| NM_000747.2:c.865G= | NP_000738.2:p.Val289= |
| ENST00000306071.6:c.865G= | ENSP00000304290.2:p.Val289= |
| ENST00000536404.6:c.649G= | ENSP00000439209.2:p.Val217= |
| ENST00000570557.5:c.528G= | |
| ENST00000573209.1:n.1809G= | |
| ENST00000576360.1:c.605-103G= | ENSP00000459092.1:n.605-103G= |