Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29977493A>C , CM000668.2:g.29977493A>C | GRCh38 |
| NC_000006.11:g.29945270A>C , CM000668.1:g.29945270A>C | GRCh37 |
| NC_000006.10:g.30053249A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_028032.1:n.404-161A>C (HCG9) | |
| ENST00000688495.1:n.361-98T>G (POLR1HASP) |