HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951784G>A , CM000670.2:g.19951784G>A | GRCh38 |
NC_000008.10:g.19809295G>A , CM000670.1:g.19809295G>A | GRCh37 |
NC_000008.9:g.19853575G>A | NCBI36 |
NG_008855.1:g.17714G>A | |
NG_008855.2:g.55068G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.265G>A MANE Select | ENSP00000497642.1:p.Glu89Lys | |
ENST00000311322.8:c.265G>A | ENSP00000309757.6:p.Glu89Lys | |
ENST00000520959.5:c.37G>A | ENSP00000428496.1:p.Glu13Lys | |
ENST00000521994.1:n.522G>A | ||
ENST00000522701.5:c.265G>A | ENSP00000428557.1:p.Glu89Lys | |
ENST00000524029.5:c.265G>A | ENSP00000428237.1:p.Glu89Lys | |
NM_000237.2:c.265G>A | NP_000228.1:p.Glu89Lys | |
NM_000237.3:c.265G>A MANE Select | NP_000228.1:p.Glu89Lys |