Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740617C>A , CM000685.2:g.153740617C>A | GRCh38 |
| NC_000023.10:g.153006071C>A , CM000685.1:g.153006071C>A | GRCh37 |
| NC_000023.9:g.152659265C>A | NCBI36 |
| NG_009022.2:g.20750C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1678C>A MANE Select | NP_000024.2:p.Pro560Thr |
| ENST00000218104.6:c.1678C>A MANE Select | ENSP00000218104.3:p.Pro560Thr |
| NM_000033.3:c.1678C>A | NP_000024.2:p.Pro560Thr |
| ENST00000218104.5:c.1678C>A | ENSP00000218104.3:p.Pro560Thr |
| XR_938507.1:n.2150C>A | |
| XR_938507.2:n.2150C>A |