Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30311353G= , CM000668.2:g.30311353G= | GRCh38 |
| NC_000006.11:g.30279130G= , CM000668.1:g.30279130G= | GRCh37 |
| NC_000006.10:g.30387109G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_024052.2:n.1017+2916C= (HCG18) | |
| NR_024053.2:n.803+15001C= (HCG18) | |
| NR_052012.1:n.126+14656C= (HCG17) | |
| NR_102326.1:n.803+15001C= (HCG18) | |
| NR_102327.1:n.1006+14798C= (HCG18) |