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