Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43552260C= , CM000681.2:g.43552260C= | GRCh38 |
| NC_000019.9:g.44056412C= , CM000681.1:g.44056412C= | GRCh37 |
| NC_000019.8:g.48748252C= | NCBI36 |
| NG_033799.1:g.28319G= , LRG_784:g.28319G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006297.3:c.839G= MANE Select | NP_006288.2:p.Arg280= |
| ENST00000262887.10:c.839G= MANE Select | ENSP00000262887.5:p.Arg280= |
| NM_006297.2:c.839G= , LRG_784t1:c.839G= | NP_006288.2:p.Arg280= |
| ENST00000262887.9:c.839G= | ENSP00000262887.4:p.Arg280= |
| ENST00000543982.5:c.746G= | ENSP00000443671.1:p.Arg249= |
| ENST00000595789.5:n.960G= | |
| ENST00000597811.5:c.449G= | |
| ENST00000598165.5:c.860G= | ENSP00000470045.1:p.Arg287= |
| ENST00000598422.1:n.519G= |