HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151010906G>A , CM000669.2:g.151010906G>A | GRCh38 |
NC_000007.13:g.150707994G>A , CM000669.1:g.150707994G>A | GRCh37 |
NC_000007.12:g.150338927G>A | NCBI36 |
NG_011992.1:g.24848G>A | |
NG_030317.1:g.18594C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297494.8:c.2904G>A MANE Select | ENSP00000297494.3:p.Leu968= | |
ENST00000297494.7:c.2904G>A | ENSP00000297494.3:p.Leu968= | |
ENST00000461406.5:c.2286G>A | ENSP00000417143.1:p.Leu762= | |
ENST00000468293.5:n.387G>A | ||
ENST00000475017.1:c.785G>A | ||
ENST00000477227.1:n.283G>A | ||
NM_000603.4:c.2904G>A | NP_000594.2:p.Leu968= | |
NM_000603.5:c.2904G>A MANE Select | NP_000594.2:p.Leu968= |