HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985818A>G , CM000678.2:g.1985818A>G | GRCh38 |
NC_000016.9:g.2035819A>G , CM000678.1:g.2035819A>G | GRCh37 |
NC_000016.8:g.1975820A>G | NCBI36 |
NG_016288.1:g.6670A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.231-48A>G | ENSP00000455885.1:n.231-48A>G | |
ENST00000248114.7:c.456-48A>G MANE Select | ENSP00000248114.6:n.456-48A>G | |
ENST00000248114.6:c.456-48A>G | ENSP00000248114.6:n.456-48A>G | |
ENST00000565658.1:n.613-48A>G | ||
ENST00000567719.1:c.231-48A>G | ENSP00000455885.1:n.231-48A>G | |
ENST00000569451.1:c.259-48A>G | ENSP00000456432.1:n.259-48A>G | |
NM_005262.2:c.456-48A>G | NP_005253.3:n.456-48A>G | |
NM_005262.3:c.456-48A>G MANE Select | NP_005253.3:n.456-48A>G |