HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147200136C= , CM000669.2:g.147200136C= | GRCh38 |
NC_000007.13:g.146897228C= , CM000669.1:g.146897228C= | GRCh37 |
NC_000007.12:g.146528161C= | NCBI36 |
NG_007092.2:g.1088776C= | |
NG_007092.3:g.1089136C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1348+67627C= MANE Select | ENSP00000354778.3:n.1348+67627C= | |
ENST00000636870.1:n.1210+67627C= | ||
ENST00000637694.1:n.1251+67627C= | ||
ENST00000637825.1:n.831+67627C= | ||
ENST00000638117.1:n.1251+67627C= | ||
ENST00000361727.7:c.1348+67627C= | ENSP00000354778.3:n.1348+67627C= | |
NM_014141.5:c.1348+67627C= | NP_054860.1:n.1348+67627C= | |
XM_017011950.2:c.1348+67627C= | XP_016867439.1:n.1348+67627C= | |
NM_014141.6:c.1348+67627C= MANE Select | NP_054860.1:n.1348+67627C= |