HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60371601A= , CM000680.2:g.60371601A= | GRCh38 |
NC_000018.9:g.58038834A= , CM000680.1:g.58038834A= | GRCh37 |
NC_000018.8:g.56189814A= | NCBI36 |
NG_016441.1:g.6168T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299766.5:c.749T= MANE Select | ENSP00000299766.3:p.Leu250= | |
ENST00000299766.4:c.749T= | ENSP00000299766.3:p.Leu250= | |
NM_005912.2:c.749T= | NP_005903.2:p.Leu250= | |
NM_005912.3:c.749T= MANE Select | NP_005903.2:p.Leu250= |