HGVS | Genome Assembly |
---|---|
NC_000018.10:g.7042018G= , CM000680.2:g.7042018G= | GRCh38 |
NC_000018.9:g.7042017G= , CM000680.1:g.7042017G= | GRCh37 |
NC_000018.8:g.7032017G= | NCBI36 |
NG_034251.1:g.80797C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389658.4:c.1261+127C= MANE Select | ENSP00000374309.3:n.1261+127C= | |
ENST00000389658.3:c.1261+127C= | ENSP00000374309.3:n.1261+127C= | |
ENST00000579014.5:n.2276+127C= | ||
NM_005559.3:c.1261+127C= | NP_005550.2:n.1261+127C= | |
XM_011525655.1:c.1261+127C= | XP_011523957.1:n.1261+127C= | |
XM_011525657.1:c.1261+127C= | XP_011523959.1:n.1261+127C= | |
XM_011525655.2:c.1261+127C= | XP_011523957.1:n.1261+127C= | |
NM_005559.4:c.1261+127C= MANE Select | NP_005550.2:n.1261+127C= |