HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47286318C>A , CM000679.2:g.47286318C>A | GRCh38 |
NC_000017.10:g.45363684C>A , CM000679.1:g.45363684C>A | GRCh37 |
NC_000017.9:g.42718683C>A | NCBI36 |
NG_008332.2:g.37477C>A , LRG_481:g.37477C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.673C>A | ENSP00000513002.1:p.Gln225Lys | |
ENST00000559488.7:c.673C>A MANE Select | ENSP00000452786.2:p.Gln225Lys | |
ENST00000559488.5:c.673C>A | ENSP00000452786.1:p.Gln225Lys | |
ENST00000560629.1:c.638C>A | ||
ENST00000571680.1:c.673C>A | ENSP00000461626.1:p.Gln225Lys | |
NM_000212.2:c.673C>A , LRG_481t1:c.673C>A | NP_000203.2:p.Gln225Lys | |
NM_000212.3:c.673C>A MANE Select | NP_000203.2:p.Gln225Lys |