HGVS | Genome Assembly |
---|---|
NC_000005.10:g.145586045T>G , CM000667.2:g.145586045T>G | GRCh38 |
NC_000005.9:g.144965608T>G , CM000667.1:g.144965608T>G | GRCh37 |
NC_000005.8:g.144945801T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000510259.5:n.71-112730A>C | ||
XR_944308.1:n.662+178886A>C |