HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565591C>A , CM000682.2:g.57565591C>A | GRCh38 |
NC_000020.10:g.56140647C>A , CM000682.1:g.56140647C>A | GRCh37 |
NC_000020.9:g.55574053C>A | NCBI36 |
NG_008205.1:g.9511C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1656C>A MANE Select | ENSP00000319814.4:p.Leu552= | |
ENST00000319441.5:c.1656C>A | ENSP00000319814.4:p.Leu552= | |
ENST00000467047.1:n.4298C>A | ||
NM_002591.3:c.1656C>A | NP_002582.3:p.Leu552= | |
XM_011528839.1:c.1260C>A | XP_011527141.1:p.Leu420= | |
XM_024451888.1:c.1260C>A | XP_024307656.1:p.Leu420= | |
NM_002591.4:c.1656C>A MANE Select | NP_002582.3:p.Leu552= |