Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142143435C= , CM000667.2:g.142143435C= | GRCh38 |
| NC_000005.9:g.141523000C= , CM000667.1:g.141523000C= | GRCh37 |
| NC_000005.8:g.141503184C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030571.4:c.563-1136C= MANE Select | NP_085048.1:n.563-1136C= |
| ENST00000253814.6:c.563-1136C= MANE Select | ENSP00000253814.3:n.563-1136C= |
| NM_030571.3:c.563-1136C= | NP_085048.1:n.563-1136C= |
| ENST00000253814.5:c.563-1136C= | ENSP00000253814.3:n.563-1136C= |
| ENST00000503388.1:n.458C= |