Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43936773C= , CM000684.2:g.43936773C= | GRCh38 |
| NC_000022.10:g.44332653C= , CM000684.1:g.44332653C= | GRCh37 |
| NC_000022.9:g.42663986C= | NCBI36 |
| NG_008631.1:g.18035C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025225.3:c.758-278C= MANE Select | NP_079501.2:n.758-278C= |
| ENST00000216180.8:c.758-278C= MANE Select | ENSP00000216180.3:n.758-278C= |
| NM_025225.2:c.758-278C= | NP_079501.2:n.758-278C= |
| ENST00000216180.7:c.758-278C= | ENSP00000216180.3:n.758-278C= |
| ENST00000406117.6:c.*390-278C= | ENSP00000384668.2:n.*390-278C= |
| ENST00000423180.2:c.746-278C= | ENSP00000397987.2:n.746-278C= |
| ENST00000497129.1:n.143-278C= |