Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.145585829G= , CM000667.2:g.145585829G= | GRCh38 |
| NC_000005.9:g.144965392G= , CM000667.1:g.144965392G= | GRCh37 |
| NC_000005.8:g.144945585G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000510259.5:n.71-112514C= | ||
| XR_944308.1:n.662+179102C= |