Table 5.
GENE | HGVSc | HGVSp | Member of family | ALT | REF |
---|---|---|---|---|---|
GCK | c.1160C > T | p.Ala387Val | I-2 | T | C |
II-1 | C | C | |||
II-2 | T | C | |||
II-4 | C | C | |||
III-1 | T | C |
HGVSc, human genome variation society cDNA; HGVSp, human genome variation society protein; ALT, alternative; REF, Reference; C, cytosine; T, thymine.