HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985937A>T , CM000678.2:g.1985937A>T | GRCh38 |
NC_000016.9:g.2035938A>T , CM000678.1:g.2035938A>T | GRCh37 |
NC_000016.8:g.1975939A>T | NCBI36 |
NG_016288.1:g.6789A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.302A>T | ENSP00000455885.1:p.Glu101Val | |
ENST00000248114.7:c.527A>T MANE Select | ENSP00000248114.6:p.Glu176Val | |
ENST00000248114.6:c.527A>T | ENSP00000248114.6:p.Glu176Val | |
ENST00000565658.1:n.684A>T | ||
ENST00000567719.1:c.302A>T | ENSP00000455885.1:p.Glu101Val | |
ENST00000569451.1:c.330A>T | ENSP00000456432.1:p.Ter110Cys | |
NM_005262.2:c.527A>T | NP_005253.3:p.Glu176Val | |
NM_005262.3:c.527A>T MANE Select | NP_005253.3:p.Glu176Val |