HGVS | Genome Assembly |
---|---|
NC_000023.11:g.106940459A>C , CM000685.2:g.106940459A>C | GRCh38 |
NC_000023.10:g.106183689A>C , CM000685.1:g.106183689A>C | GRCh37 |
NC_000023.9:g.106070345A>C | NCBI36 |
NG_016392.1:g.64786T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000604604.1:c.111+52771T>G | ||
XM_005262190.3:c.*1020T>G | XP_005262247.1:n.*1020T>G | |
XM_006724691.2:c.*1020T>G | XP_006724754.1:n.*1020T>G | |
XM_011531027.2:c.*1020T>G | XP_011529329.1:n.*1020T>G | |
XM_017029844.1:c.*1093T>G | XP_016885333.1:n.*1093T>G |