HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3857754T>C , CM000682.2:g.3857754T>C | GRCh38 |
NC_000020.10:g.3838401T>C , CM000682.1:g.3838401T>C | GRCh37 |
NC_000020.9:g.3786401T>C | NCBI36 |
NG_030028.1:g.15956T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000428216.4:c.237T>C MANE Select | ENSP00000401980.2:p.Cys79= | |
ENST00000416600.6:c.-132+3013T>C | ENSP00000413749.2:n.-132+3013T>C | |
ENST00000428216.3:c.237T>C | ENSP00000401980.2:p.Cys79= | |
NM_001206491.1:c.-132+3013T>C | NP_001193420.1:n.-132+3013T>C | |
NM_020746.4:c.237T>C | NP_065797.2:p.Cys79= | |
NR_037921.1:n.409T>C | ||
NM_020746.5:c.237T>C MANE Select | NP_065797.2:p.Cys79= | |
NR_037921.2:n.374T>C | ||
NM_001206491.2:c.-132+3013T>C | NP_001193420.1:n.-132+3013T>C | |
NM_001385663.1:c.-311T>C | NP_001372592.1:n.-311T>C |