HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10658652C>T , CM000682.2:g.10658652C>T | GRCh38 |
NC_000020.10:g.10639300C>T , CM000682.1:g.10639300C>T | GRCh37 |
NC_000020.9:g.10587300C>T | NCBI36 |
NG_007496.1:g.20395G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.510G>A MANE Select | ENSP00000254958.4:p.Leu170= | |
ENST00000254958.9:c.510G>A | ENSP00000254958.4:p.Leu170= | |
ENST00000423891.6:n.376G>A | ||
NM_000214.2:c.510G>A | NP_000205.1:p.Leu170= | |
NM_000214.3:c.510G>A MANE Select | NP_000205.1:p.Leu170= |