HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454659A>G , CM000679.2:g.7454659A>G | GRCh38 |
NC_000017.10:g.7357978A>G , CM000679.1:g.7357978A>G | GRCh37 |
NC_000017.9:g.7298702A>G | NCBI36 |
NG_008026.1:g.14573A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1044+139A>G MANE Select | ENSP00000304290.2:n.1044+139A>G | |
ENST00000306071.6:c.1044+139A>G | ENSP00000304290.2:n.1044+139A>G | |
ENST00000536404.6:c.828+139A>G | ENSP00000439209.2:n.828+139A>G | |
ENST00000570557.5:c.707+139A>G | ||
ENST00000573209.1:n.1988+139A>G | ||
ENST00000576360.1:c.681+139A>G | ENSP00000459092.1:n.681+139A>G | |
NM_000747.2:c.1044+139A>G | NP_000738.2:n.1044+139A>G | |
NM_000747.3:c.1044+139A>G MANE Select | NP_000738.2:n.1044+139A>G |