HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951895G>A , CM000670.2:g.19951895G>A | GRCh38 |
NC_000008.10:g.19809406G>A , CM000670.1:g.19809406G>A | GRCh37 |
NC_000008.9:g.19853686G>A | NCBI36 |
NG_008855.1:g.17825G>A | |
NG_008855.2:g.55179G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.376G>A MANE Select | ENSP00000497642.1:p.Gly126Ser | |
ENST00000311322.8:c.376G>A | ENSP00000309757.6:p.Gly126Ser | |
ENST00000520959.5:c.148G>A | ENSP00000428496.1:p.Gly50Ser | |
ENST00000524029.5:c.376G>A | ENSP00000428237.1:p.Gly126Ser | |
NM_000237.2:c.376G>A | NP_000228.1:p.Gly126Ser | |
NM_000237.3:c.376G>A MANE Select | NP_000228.1:p.Gly126Ser |