HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985943A>G , CM000678.2:g.1985943A>G | GRCh38 |
NC_000016.9:g.2035944A>G , CM000678.1:g.2035944A>G | GRCh37 |
NC_000016.8:g.1975945A>G | NCBI36 |
NG_016288.1:g.6795A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.308A>G | ENSP00000455885.1:p.Asn103Ser | |
ENST00000248114.7:c.533A>G MANE Select | ENSP00000248114.6:p.Asn178Ser | |
ENST00000248114.6:c.533A>G | ENSP00000248114.6:p.Asn178Ser | |
ENST00000565658.1:n.690A>G | ||
ENST00000567719.1:c.308A>G | ENSP00000455885.1:p.Asn103Ser | |
ENST00000569451.1:c.*6A>G | ENSP00000456432.1:n.*6A>G | |
NM_005262.2:c.533A>G | NP_005253.3:p.Asn178Ser | |
NM_005262.3:c.533A>G MANE Select | NP_005253.3:p.Asn178Ser |