Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726027C= , CM000685.2:g.153726027C= | GRCh38 |
| NC_000023.10:g.152991482C= , CM000685.1:g.152991482C= | GRCh37 |
| NC_000023.9:g.152644676C= | NCBI36 |
| NG_009022.2:g.6160C= | |
| NG_023231.1:g.3720G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.761C= MANE Select | NP_000024.2:p.Thr254= |
| ENST00000218104.6:c.761C= MANE Select | ENSP00000218104.3:p.Thr254= |
| NM_000033.3:c.761C= | NP_000024.2:p.Thr254= |
| ENST00000218104.5:c.761C= | ENSP00000218104.3:p.Thr254= |
| ENST00000370129.4:c.206C= | ENSP00000359147.3:p.Thr69= |
| XR_938507.1:n.1177C= | |
| XR_938507.2:n.1177C= |