HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42132781G>T , CM000684.2:g.42132781G>T | GRCh38 |
NC_000022.10:g.42528788G>T , CM000684.1:g.42528788G>T | GRCh37 |
NC_000022.9:g.40858732G>T | NCBI36 |
NG_008376.3:g.2211C>A | |
NG_008376.4:g.3030C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000417586.1:n.239G>T | ||
XM_011529967.1:c.-1045-945C>A | XP_011528269.1:n.-1045-945C>A |