HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3857660T= , CM000682.2:g.3857660T= | GRCh38 |
NC_000020.10:g.3838307T= , CM000682.1:g.3838307T= | GRCh37 |
NC_000020.9:g.3786307T= | NCBI36 |
NG_030028.1:g.15862T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000428216.4:c.143T= MANE Select | ENSP00000401980.2:p.Leu48= | |
ENST00000416600.6:c.-132+2919T= | ENSP00000413749.2:n.-132+2919T= | |
ENST00000428216.3:c.143T= | ENSP00000401980.2:p.Leu48= | |
NM_001206491.1:c.-132+2919T= | NP_001193420.1:n.-132+2919T= | |
NM_020746.4:c.143T= | NP_065797.2:p.Leu48= | |
NR_037921.1:n.315T= | ||
NM_020746.5:c.143T= MANE Select | NP_065797.2:p.Leu48= | |
NR_037921.2:n.280T= | ||
NM_001206491.2:c.-132+2919T= | NP_001193420.1:n.-132+2919T= | |
NM_001385663.1:c.-405T= | NP_001372592.1:n.-405T= |