HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42132590G>C , CM000684.2:g.42132590G>C | GRCh38 |
NC_000022.10:g.42528597G>C , CM000684.1:g.42528597G>C | GRCh37 |
NC_000022.9:g.40858541G>C | NCBI36 |
NG_008376.3:g.2402C>G | |
NG_008376.4:g.3221C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000417586.1:n.48G>C | ||
XM_011529967.1:c.-1045-754C>G | XP_011528269.1:n.-1045-754C>G |