HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29530404C>A , CM000679.2:g.29530404C>A | GRCh38 |
NC_000017.10:g.27857422C>A , CM000679.1:g.27857422C>A | GRCh37 |
NC_000017.9:g.24881548C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261716.8:c.2149-3C>A MANE Select | ENSP00000261716.3:n.2149-3C>A | |
ENST00000261716.7:c.2149-3C>A | ENSP00000261716.3:n.2149-3C>A | |
ENST00000536202.1:c.1705-3C>A | ENSP00000438819.1:n.1705-3C>A | |
ENST00000578653.1:n.233-3C>A | ||
NM_020791.2:c.2149-3C>A | NP_065842.1:n.2149-3C>A | |
NM_025142.1:c.1705-3C>A | NP_079418.1:n.1705-3C>A | |
XM_011525060.1:c.2149-3C>A | XP_011523362.1:n.2149-3C>A | |
XM_011525060.2:c.2149-3C>A | XP_011523362.1:n.2149-3C>A | |
NM_020791.4:c.2149-3C>A MANE Select | NP_065842.1:n.2149-3C>A |