HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454678A= , CM000679.2:g.7454678A= | GRCh38 |
NC_000017.10:g.7357997A= , CM000679.1:g.7357997A= | GRCh37 |
NC_000017.9:g.7298721A= | NCBI36 |
NG_008026.1:g.14592A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1044+158A= MANE Select | ENSP00000304290.2:n.1044+158A= | |
ENST00000306071.6:c.1044+158A= | ENSP00000304290.2:n.1044+158A= | |
ENST00000536404.6:c.828+158A= | ENSP00000439209.2:n.828+158A= | |
ENST00000570557.5:c.707+158A= | ||
ENST00000573209.1:n.1988+158A= | ||
ENST00000576360.1:c.681+158A= | ENSP00000459092.1:n.681+158A= | |
NM_000747.2:c.1044+158A= | NP_000738.2:n.1044+158A= | |
NM_000747.3:c.1044+158A= MANE Select | NP_000738.2:n.1044+158A= |