HGVS | Genome Assembly |
---|---|
NC_000007.14:g.255804G>T , CM000669.2:g.255804G>T | GRCh38 |
NC_000007.13:g.295770G>T , CM000669.1:g.295770G>T | GRCh37 |
NG_033970.1:g.65440G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313766.6:c.1073-45G>T MANE Select | ENSP00000322323.5:n.1073-45G>T | |
ENST00000313766.5:c.1073-45G>T | ENSP00000322323.5:n.1073-45G>T | |
ENST00000515795.1:n.730-45G>T | ||
NM_020223.3:c.1073-45G>T | NP_064608.2:n.1073-45G>T | |
XR_242097.3:n.1220-45G>T | ||
XM_017012450.1:c.1334-45G>T | XP_016867939.1:n.1334-45G>T | |
XM_017012451.1:c.1331-45G>T | XP_016867940.1:n.1331-45G>T | |
XM_017012455.2:c.371-45G>T | XP_016867944.1:n.371-45G>T | |
NM_020223.4:c.1073-45G>T MANE Select | NP_064608.2:n.1073-45G>T |