Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725410G>A , CM000685.2:g.153725410G>A | GRCh38 |
| NC_000023.10:g.152990865G>A , CM000685.1:g.152990865G>A | GRCh37 |
| NC_000023.9:g.152644059G>A | NCBI36 |
| NG_009022.2:g.5543G>A | |
| NG_023231.1:g.4337C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.144G>A MANE Select | NP_000024.2:p.Ala48= |
| ENST00000218104.6:c.144G>A MANE Select | ENSP00000218104.3:p.Ala48= |
| NM_000033.3:c.144G>A | NP_000024.2:p.Ala48= |
| ENST00000218104.5:c.144G>A | ENSP00000218104.3:p.Ala48= |
| XR_938507.1:n.560G>A | |
| XR_938507.2:n.560G>A |