HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3857796G>A , CM000682.2:g.3857796G>A | GRCh38 |
NC_000020.10:g.3838443G>A , CM000682.1:g.3838443G>A | GRCh37 |
NC_000020.9:g.3786443G>A | NCBI36 |
NG_030028.1:g.15998G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000428216.4:c.279G>A MANE Select | ENSP00000401980.2:p.Gln93= | |
ENST00000416600.6:c.-132+3055G>A | ENSP00000413749.2:n.-132+3055G>A | |
ENST00000428216.3:c.279G>A | ENSP00000401980.2:p.Gln93= | |
NM_001206491.1:c.-132+3055G>A | NP_001193420.1:n.-132+3055G>A | |
NM_020746.4:c.279G>A | NP_065797.2:p.Gln93= | |
NR_037921.1:n.451G>A | ||
NM_020746.5:c.279G>A MANE Select | NP_065797.2:p.Gln93= | |
NR_037921.2:n.416G>A | ||
NM_001206491.2:c.-132+3055G>A | NP_001193420.1:n.-132+3055G>A | |
NM_001385663.1:c.-269G>A | NP_001372592.1:n.-269G>A |