HGVS | Genome Assembly |
---|---|
NC_000006.12:g.116882316C>A , CM000668.2:g.116882316C>A | GRCh38 |
NC_000006.11:g.117203479C>A , CM000668.1:g.117203479C>A | GRCh37 |
NC_000006.10:g.117310172C>A | NCBI36 |
NG_027699.1:g.10104C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000332958.3:c.505-51C>A MANE Select | ENSP00000332208.2:n.505-51C>A | |
ENST00000332958.2:c.505-51C>A | ENSP00000332208.2:n.505-51C>A | |
ENST00000487683.5:n.569-51C>A | ||
NM_173560.3:c.505-51C>A | NP_775831.2:n.505-51C>A | |
XM_011535589.1:c.505-51C>A | XP_011533891.1:n.505-51C>A | |
XM_017010477.1:c.127-51C>A | XP_016865966.1:n.127-51C>A | |
NM_173560.4:c.505-51C>A MANE Select | NP_775831.2:n.505-51C>A |