HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648056C>A , CM000673.2:g.69648056C>A | GRCh38 |
NC_000011.9:g.69462824C>A , CM000673.1:g.69462824C>A | GRCh37 |
NC_000011.8:g.69172005C>A | NCBI36 |
NG_007375.1:g.11952C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227507.3:c.637C>A MANE Select | ENSP00000227507.2:p.Gln213Lys | |
ENST00000227507.2:c.637C>A | ENSP00000227507.2:p.Gln213Lys | |
ENST00000536559.1:c.*57C>A | ENSP00000438482.1:n.*57C>A | |
ENST00000542367.1:n.100C>A | ||
ENST00000545484.1:n.343C>A | ||
NM_053056.2:c.637C>A | NP_444284.1:p.Gln213Lys | |
XM_006718653.2:c.661C>A | XP_006718716.1:p.Gln221Lys | |
NM_053056.3:c.637C>A MANE Select | NP_444284.1:p.Gln213Lys |