HGVS | Genome Assembly |
---|---|
NC_000023.11:g.21845369G>A , CM000685.2:g.21845369G>A | GRCh38 |
NC_000023.10:g.21863487G>A , CM000685.1:g.21863487G>A | GRCh37 |
NC_000023.9:g.21773408G>A | NCBI36 |
NG_012797.1:g.10832G>A | |
NG_012797.2:g.10832G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379484.10:c.423G>A MANE Select | ENSP00000368798.5:p.Gln141= | |
ENST00000365779.2:c.423G>A | ENSP00000368796.1:p.Gln141= | |
ENST00000379484.9:c.423G>A | ENSP00000368798.5:p.Gln141= | |
ENST00000465888.1:n.522G>A | ||
NM_015884.3:c.423G>A | NP_056968.1:p.Gln141= | |
NM_015884.4:c.423G>A MANE Select | NP_056968.1:p.Gln141= |