HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709756G= , CM000681.2:g.6709756G= | GRCh38 |
NC_000019.9:g.6709767G= , CM000681.1:g.6709767G= | GRCh37 |
NC_000019.8:g.6660767G= | NCBI36 |
NG_009557.1:g.15896C= , LRG_27:g.15896C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1650C= | ENSP00000512083.1:p.Ala550= | |
ENST00000695654.1:c.897C= | ENSP00000512085.1:p.Ala299= | |
ENST00000695655.1:c.714C= | ENSP00000512086.1:n.714C= | |
ENST00000695692.1:n.1137C= | ||
ENST00000245907.11:c.1773C= MANE Select | ENSP00000245907.4:p.Ala591= | |
ENST00000245907.10:c.1773C= | ENSP00000245907.4:p.Ala591= | |
ENST00000600763.1:n.406C= | ||
NM_000064.3:c.1773C= | NP_000055.2:p.Ala591= | |
NM_000064.4:c.1773C= MANE Select | NP_000055.2:p.Ala591= |