HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14978072C>A , CM000674.2:g.14978072C>A | GRCh38 |
NC_000012.11:g.15131006C>A , CM000674.1:g.15131006C>A | GRCh37 |
NC_000012.10:g.15022273C>A | NCBI36 |
NG_016859.1:g.10051C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266395.3:c.60C>A MANE Select | ENSP00000266395.2:p.Arg20= | |
ENST00000266395.2:c.60C>A | ENSP00000266395.2:p.Arg20= | |
NM_006205.2:c.60C>A | NP_006196.1:p.Arg20= | |
XR_931376.1:n.175+11415G>T | ||
XM_017019431.2:c.60C>A | XP_016874920.1:p.Arg20= | |
XR_931376.2:n.389+11415G>T | ||
NM_006205.3:c.60C>A MANE Select | NP_006196.1:p.Arg20= |