HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3857659C= , CM000682.2:g.3857659C= | GRCh38 |
NC_000020.10:g.3838306C= , CM000682.1:g.3838306C= | GRCh37 |
NC_000020.9:g.3786306C= | NCBI36 |
NG_030028.1:g.15861C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000428216.4:c.142C= MANE Select | ENSP00000401980.2:p.Leu48= | |
ENST00000416600.6:c.-132+2918C= | ENSP00000413749.2:n.-132+2918C= | |
ENST00000428216.3:c.142C= | ENSP00000401980.2:p.Leu48= | |
NM_001206491.1:c.-132+2918C= | NP_001193420.1:n.-132+2918C= | |
NM_020746.4:c.142C= | NP_065797.2:p.Leu48= | |
NR_037921.1:n.314C= | ||
NM_020746.5:c.142C= MANE Select | NP_065797.2:p.Leu48= | |
NR_037921.2:n.279C= | ||
NM_001206491.2:c.-132+2918C= | NP_001193420.1:n.-132+2918C= | |
NM_001385663.1:c.-406C= | NP_001372592.1:n.-406C= |