HGVS | Genome Assembly |
---|---|
NC_000007.14:g.255845C>G , CM000669.2:g.255845C>G | GRCh38 |
NC_000007.13:g.295811C>G , CM000669.1:g.295811C>G | GRCh37 |
NG_033970.1:g.65481C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313766.6:c.1073-4C>G MANE Select | ENSP00000322323.5:n.1073-4C>G | |
ENST00000313766.5:c.1073-4C>G | ENSP00000322323.5:n.1073-4C>G | |
ENST00000515795.1:n.730-4C>G | ||
NM_020223.3:c.1073-4C>G | NP_064608.2:n.1073-4C>G | |
XR_242097.3:n.1220-4C>G | ||
XM_017012450.1:c.1334-4C>G | XP_016867939.1:n.1334-4C>G | |
XM_017012451.1:c.1331-4C>G | XP_016867940.1:n.1331-4C>G | |
XM_017012455.2:c.371-4C>G | XP_016867944.1:n.371-4C>G | |
NM_020223.4:c.1073-4C>G MANE Select | NP_064608.2:n.1073-4C>G |