HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38408912G>C , CM000685.2:g.38408912G>C | GRCh38 |
NC_000023.10:g.38268165G>C , CM000685.1:g.38268165G>C | GRCh37 |
NC_000023.9:g.38153109G>C | NCBI36 |
NG_008471.1:g.61430G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.754G>C MANE Select | ENSP00000039007.4:p.Glu252Gln | |
ENST00000643344.1:c.*504G>C | ENSP00000496606.1:n.*504G>C | |
ENST00000039007.4:c.754G>C | ENSP00000039007.4:p.Glu252Gln | |
ENST00000465127.1:c.172-257209G>C | ENSP00000417050.1:n.172-257209G>C | |
NM_000531.5:c.754G>C | NP_000522.3:p.Glu252Gln | |
XM_017029556.1:c.754G>C | XP_016885045.1:p.Glu252Gln | |
NM_000531.6:c.754G>C MANE Select | NP_000522.3:p.Glu252Gln |