Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725409C>T , CM000685.2:g.153725409C>T | GRCh38 |
| NC_000023.10:g.152990864C>T , CM000685.1:g.152990864C>T | GRCh37 |
| NC_000023.9:g.152644058C>T | NCBI36 |
| NG_009022.2:g.5542C>T | |
| NG_023231.1:g.4338G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.143C>T MANE Select | NP_000024.2:p.Ala48Val |
| ENST00000218104.6:c.143C>T MANE Select | ENSP00000218104.3:p.Ala48Val |
| NM_000033.3:c.143C>T | NP_000024.2:p.Ala48Val |
| ENST00000218104.5:c.143C>T | ENSP00000218104.3:p.Ala48Val |
| XR_938507.1:n.559C>T | |
| XR_938507.2:n.559C>T |