HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3857757G= , CM000682.2:g.3857757G= | GRCh38 |
NC_000020.10:g.3838404G= , CM000682.1:g.3838404G= | GRCh37 |
NC_000020.9:g.3786404G= | NCBI36 |
NG_030028.1:g.15959G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000428216.4:c.240G= MANE Select | ENSP00000401980.2:p.Glu80= | |
ENST00000416600.6:c.-132+3016G= | ENSP00000413749.2:n.-132+3016G= | |
ENST00000428216.3:c.240G= | ENSP00000401980.2:p.Glu80= | |
NM_001206491.1:c.-132+3016G= | NP_001193420.1:n.-132+3016G= | |
NM_020746.4:c.240G= | NP_065797.2:p.Glu80= | |
NR_037921.1:n.412G= | ||
NM_020746.5:c.240G= MANE Select | NP_065797.2:p.Glu80= | |
NR_037921.2:n.377G= | ||
NM_001206491.2:c.-132+3016G= | NP_001193420.1:n.-132+3016G= | |
NM_001385663.1:c.-308G= | NP_001372592.1:n.-308G= |