HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985919T>A , CM000678.2:g.1985919T>A | GRCh38 |
NC_000016.9:g.2035920T>A , CM000678.1:g.2035920T>A | GRCh37 |
NC_000016.8:g.1975921T>A | NCBI36 |
NG_016288.1:g.6771T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.284T>A | ENSP00000455885.1:p.Leu95Gln | |
ENST00000248114.7:c.509T>A MANE Select | ENSP00000248114.6:p.Leu170Gln | |
ENST00000248114.6:c.509T>A | ENSP00000248114.6:p.Leu170Gln | |
ENST00000565658.1:n.666T>A | ||
ENST00000567719.1:c.284T>A | ENSP00000455885.1:p.Leu95Gln | |
ENST00000569451.1:c.312T>A | ENSP00000456432.1:p.Ala104= | |
NM_005262.2:c.509T>A | NP_005253.3:p.Leu170Gln | |
NM_005262.3:c.509T>A MANE Select | NP_005253.3:p.Leu170Gln |