Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12097868C>A , CM000672.2:g.12097868C>A | GRCh38 |
| NC_000010.10:g.12139867C>A , CM000672.1:g.12139867C>A | GRCh37 |
| NC_000010.9:g.12179873C>A | NCBI36 |
| NG_033248.1:g.33952C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.1543C>A MANE Select | NP_061176.4:p.Pro515Thr |
| ENST00000263035.9:c.1543C>A MANE Select | ENSP00000263035.4:p.Pro515Thr |
| NM_018706.6:c.1543C>A | NP_061176.3:p.Pro515Thr |
| ENST00000263035.8:c.1543C>A | ENSP00000263035.4:p.Pro515Thr |
| ENST00000448829.1:c.197C>A | |
| ENST00000465617.1:n.683C>A |