HGVS | Genome Assembly |
---|---|
NC_000023.11:g.106940372A>G , CM000685.2:g.106940372A>G | GRCh38 |
NC_000023.10:g.106183602A>G , CM000685.1:g.106183602A>G | GRCh37 |
NC_000023.9:g.106070258A>G | NCBI36 |
NG_016392.1:g.64873T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000604604.1:c.111+52858T>C | ||
XM_005262190.3:c.*1107T>C | XP_005262247.1:n.*1107T>C | |
XM_006724691.2:c.*1107T>C | XP_006724754.1:n.*1107T>C | |
XM_011531027.2:c.*1107T>C | XP_011529329.1:n.*1107T>C | |
XM_017029844.1:c.*1180T>C | XP_016885333.1:n.*1180T>C |