HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985989G>A , CM000678.2:g.1985989G>A | GRCh38 |
NC_000016.9:g.2035990G>A , CM000678.1:g.2035990G>A | GRCh37 |
NC_000016.8:g.1975991G>A | NCBI36 |
NG_016288.1:g.6841G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.354G>A | ENSP00000455885.1:p.Glu118= | |
ENST00000248114.7:c.579G>A MANE Select | ENSP00000248114.6:p.Glu193= | |
ENST00000248114.6:c.579G>A | ENSP00000248114.6:p.Glu193= | |
ENST00000565658.1:n.736G>A | ||
ENST00000567719.1:c.354G>A | ENSP00000455885.1:p.Glu118= | |
ENST00000569451.1:c.*52G>A | ENSP00000456432.1:n.*52G>A | |
NM_005262.2:c.579G>A | NP_005253.3:p.Glu193= | |
NM_005262.3:c.579G>A MANE Select | NP_005253.3:p.Glu193= |