HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78118133G>A , CM000685.2:g.78118133G>A | GRCh38 |
NC_000023.10:g.77373630G>A , CM000685.1:g.77373630G>A | GRCh37 |
NC_000023.9:g.77260286G>A | NCBI36 |
NG_008862.1:g.18965G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.604G>A MANE Select | ENSP00000362413.4:p.Glu202Lys | |
ENST00000644362.1:c.520G>A | ENSP00000496140.1:p.Glu174Lys | |
ENST00000373316.4:c.604G>A | ENSP00000362413.4:p.Glu202Lys | |
ENST00000491291.1:n.596G>A | ||
NM_000291.3:c.604G>A | NP_000282.1:p.Glu202Lys | |
NM_000291.4:c.604G>A MANE Select | NP_000282.1:p.Glu202Lys |