HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42132766C>G , CM000684.2:g.42132766C>G | GRCh38 |
NC_000022.10:g.42528773C>G , CM000684.1:g.42528773C>G | GRCh37 |
NC_000022.9:g.40858717C>G | NCBI36 |
NG_008376.3:g.2226G>C | |
NG_008376.4:g.3045G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000417586.1:n.224C>G | ||
XM_011529967.1:c.-1045-930G>C | XP_011528269.1:n.-1045-930G>C |