| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.152354548C>T , CM000667.2:g.152354548C>T | GRCh38 |
| NC_000005.9:g.151734109C>T , CM000667.1:g.151734109C>T | GRCh37 |
| NC_000005.8:g.151714302C>T | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_944433.1:n.196+16685C>T | |
| XR_944433.2:n.197+16685C>T |