HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3857661C>G , CM000682.2:g.3857661C>G | GRCh38 |
NC_000020.10:g.3838308C>G , CM000682.1:g.3838308C>G | GRCh37 |
NC_000020.9:g.3786308C>G | NCBI36 |
NG_030028.1:g.15863C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000428216.4:c.144C>G MANE Select | ENSP00000401980.2:p.Leu48= | |
ENST00000416600.6:c.-132+2920C>G | ENSP00000413749.2:n.-132+2920C>G | |
ENST00000428216.3:c.144C>G | ENSP00000401980.2:p.Leu48= | |
NM_001206491.1:c.-132+2920C>G | NP_001193420.1:n.-132+2920C>G | |
NM_020746.4:c.144C>G | NP_065797.2:p.Leu48= | |
NR_037921.1:n.316C>G | ||
NM_020746.5:c.144C>G MANE Select | NP_065797.2:p.Leu48= | |
NR_037921.2:n.281C>G | ||
NM_001206491.2:c.-132+2920C>G | NP_001193420.1:n.-132+2920C>G | |
NM_001385663.1:c.-404C>G | NP_001372592.1:n.-404C>G |