HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454570G>A , CM000679.2:g.7454570G>A | GRCh38 |
NC_000017.10:g.7357889G>A , CM000679.1:g.7357889G>A | GRCh37 |
NC_000017.9:g.7298613G>A | NCBI36 |
NG_008026.1:g.14484G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1044+50G>A MANE Select | ENSP00000304290.2:n.1044+50G>A | |
ENST00000306071.6:c.1044+50G>A | ENSP00000304290.2:n.1044+50G>A | |
ENST00000536404.6:c.828+50G>A | ENSP00000439209.2:n.828+50G>A | |
ENST00000570557.5:c.707+50G>A | ||
ENST00000573209.1:n.1988+50G>A | ||
ENST00000576360.1:c.681+50G>A | ENSP00000459092.1:n.681+50G>A | |
NM_000747.2:c.1044+50G>A | NP_000738.2:n.1044+50G>A | |
NM_000747.3:c.1044+50G>A MANE Select | NP_000738.2:n.1044+50G>A |