Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83899216G>A , CM000678.2:g.83899216G>A | GRCh38 |
| NC_000016.9:g.83932821G>A , CM000678.1:g.83932821G>A | GRCh37 |
| NC_000016.8:g.82490322G>A | NCBI36 |
| NG_009079.1:g.5092G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.72G>A MANE Select | NP_036345.2:p.Gly24= |
| ENST00000262430.6:c.72G>A MANE Select | ENSP00000262430.4:p.Gly24= |
| NM_012213.2:c.72G>A | NP_036345.2:p.Gly24= |
| ENST00000262430.5:c.72G>A | ENSP00000262430.4:p.Gly24= |