HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42132656C>G , CM000684.2:g.42132656C>G | GRCh38 |
NC_000022.10:g.42528663C>G , CM000684.1:g.42528663C>G | GRCh37 |
NC_000022.9:g.40858607C>G | NCBI36 |
NG_008376.3:g.2336G>C | |
NG_008376.4:g.3155G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000417586.1:n.114C>G | ||
XM_011529967.1:c.-1045-820G>C | XP_011528269.1:n.-1045-820G>C |