HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39505297G>A , CM000681.2:g.39505297G>A | GRCh38 |
NC_000019.9:g.39995937G>A , CM000681.1:g.39995937G>A | GRCh37 |
NC_000019.8:g.44687777G>A | NCBI36 |
NG_008256.1:g.11381G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356433.10:c.939G>A MANE Select | ENSP00000348810.4:p.Gly313= | |
ENST00000205143.4:c.939G>A | ENSP00000205143.3:p.Gly313= | |
ENST00000356433.9:c.939G>A | ENSP00000348810.4:p.Gly313= | |
ENST00000596614.5:c.410-1742G>A | ENSP00000471688.1:n.410-1742G>A | |
ENST00000600437.1:n.1019G>A | ||
NM_016941.3:c.939G>A | NP_058637.1:p.Gly313= | |
NM_203486.2:c.939G>A | NP_982353.1:p.Gly313= | |
NM_016941.4:c.939G>A | NP_058637.1:p.Gly313= | |
NM_203486.3:c.939G>A MANE Select | NP_982353.1:p.Gly313= |