Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83912256G>A , CM000678.2:g.83912256G>A | GRCh38 |
| NC_000016.9:g.83945861G>A , CM000678.1:g.83945861G>A | GRCh37 |
| NC_000016.8:g.82503362G>A | NCBI36 |
| NG_009079.1:g.18132G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.837G>A MANE Select | NP_036345.2:p.Glu279= |
| ENST00000262430.6:c.837G>A MANE Select | ENSP00000262430.4:p.Glu279= |
| NM_012213.2:c.837G>A | NP_036345.2:p.Glu279= |
| ENST00000262430.5:c.837G>A | ENSP00000262430.4:p.Glu279= |
| ENST00000561562.5:c.190G>A | |
| ENST00000563312.5:c.147G>A | ENSP00000477143.1:p.Glu49= |
| ENST00000566309.2:c.147G>A | ENSP00000476300.1:p.Glu49= |
| ENST00000569024.1:n.574G>A |