HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147904437C>A , CM000669.2:g.147904437C>A | GRCh38 |
NC_000007.13:g.147601529C>A , CM000669.1:g.147601529C>A | GRCh37 |
NC_000007.12:g.147232462C>A | NCBI36 |
NG_007092.2:g.1793077C>A | |
NG_007092.3:g.1793437C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.2255+716C>A MANE Select | ENSP00000354778.3:n.2255+716C>A | |
ENST00000636870.1:n.2117+716C>A | ||
ENST00000637825.1:n.1738+716C>A | ||
ENST00000361727.7:c.2255+716C>A | ENSP00000354778.3:n.2255+716C>A | |
ENST00000455301.2:n.190+716C>A | ||
ENST00000627772.2:n.428+716C>A | ||
NM_014141.5:c.2255+716C>A | NP_054860.1:n.2255+716C>A | |
XM_006715919.1:c.743+716C>A | XP_006715982.1:n.743+716C>A | |
NM_014141.6:c.2255+716C>A MANE Select | NP_054860.1:n.2255+716C>A |