HGVS | Genome Assembly |
---|---|
NC_000005.10:g.145659102G>A , CM000667.2:g.145659102G>A | GRCh38 |
NC_000005.9:g.145038665G>A , CM000667.1:g.145038665G>A | GRCh37 |
NC_000005.8:g.145018858G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000510259.5:n.70+105829C>T | ||
XR_944308.1:n.662+105829C>T | ||
XM_017009130.1:c.*6254C>T | XP_016864619.1:n.*6254C>T | |
XM_017009133.1:c.*6286C>T | XP_016864622.1:n.*6286C>T | |
XR_001742025.1:n.913+44873C>T |