HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42132772T>A , CM000684.2:g.42132772T>A | GRCh38 |
NC_000022.10:g.42528779T>A , CM000684.1:g.42528779T>A | GRCh37 |
NC_000022.9:g.40858723T>A | NCBI36 |
NG_008376.3:g.2220A>T | |
NG_008376.4:g.3039A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000417586.1:n.230T>A | ||
XM_011529967.1:c.-1045-936A>T | XP_011528269.1:n.-1045-936A>T |