The mutation is a G to T transition at base pair 95,958,671 (v38) on chromosome 5, or base pair 1,733 in the GenBank genomic region NC_000071. The mutation corresponds to residue 133 in the mRNA sequence NM_018866 within exon 2 of 4 total exons. The mutation results in a cysteine (C) to phenylalanine (F) substitution at position 34 (C34F). (J:221480)