HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454723C= , CM000679.2:g.7454723C= | GRCh38 |
NC_000017.10:g.7358042C= , CM000679.1:g.7358042C= | GRCh37 |
NC_000017.9:g.7298766C= | NCBI36 |
NG_008026.1:g.14637C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1044+203C= MANE Select | ENSP00000304290.2:n.1044+203C= | |
ENST00000306071.6:c.1044+203C= | ENSP00000304290.2:n.1044+203C= | |
ENST00000536404.6:c.828+203C= | ENSP00000439209.2:n.828+203C= | |
ENST00000570557.5:c.707+203C= | ||
ENST00000573209.1:n.1988+203C= | ||
ENST00000576360.1:c.681+203C= | ENSP00000459092.1:n.681+203C= | |
NM_000747.2:c.1044+203C= | NP_000738.2:n.1044+203C= | |
NM_000747.3:c.1044+203C= MANE Select | NP_000738.2:n.1044+203C= |