HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951776G>A , CM000670.2:g.19951776G>A | GRCh38 |
NC_000008.10:g.19809287G>A , CM000670.1:g.19809287G>A | GRCh37 |
NC_000008.9:g.19853567G>A | NCBI36 |
NG_008855.1:g.17706G>A | |
NG_008855.2:g.55060G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.257G>A MANE Select | ENSP00000497642.1:p.Gly86Glu | |
ENST00000311322.8:c.257G>A | ENSP00000309757.6:p.Gly86Glu | |
ENST00000520959.5:c.29G>A | ENSP00000428496.1:p.Gly10Glu | |
ENST00000521994.1:n.514G>A | ||
ENST00000522701.5:c.257G>A | ENSP00000428557.1:p.Gly86Glu | |
ENST00000524029.5:c.257G>A | ENSP00000428237.1:p.Gly86Glu | |
NM_000237.2:c.257G>A | NP_000228.1:p.Gly86Glu | |
NM_000237.3:c.257G>A MANE Select | NP_000228.1:p.Gly86Glu |