HGVS | Genome Assembly |
---|---|
NC_000023.11:g.106940325C>T , CM000685.2:g.106940325C>T | GRCh38 |
NC_000023.10:g.106183555C>T , CM000685.1:g.106183555C>T | GRCh37 |
NC_000023.9:g.106070211C>T | NCBI36 |
NG_016392.1:g.64920G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000604604.1:c.111+52905G>A | ||
XM_005262190.3:c.*1154G>A | XP_005262247.1:n.*1154G>A | |
XM_006724691.2:c.*1154G>A | XP_006724754.1:n.*1154G>A | |
XM_011531027.2:c.*1154G>A | XP_011529329.1:n.*1154G>A | |
XM_017029844.1:c.*1227G>A | XP_016885333.1:n.*1227G>A |