HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352112T>A , CM000679.2:g.44352112T>A | GRCh38 |
NC_000017.10:g.42429480T>A , CM000679.1:g.42429480T>A | GRCh37 |
NC_000017.9:g.39785006T>A | NCBI36 |
NG_007886.1:g.11990T>A , LRG_661:g.11990T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1277T>A MANE Select | ENSP00000053867.2:p.Leu426Gln | |
ENST00000639447.1:c.1136+360T>A | ENSP00000492014.1:n.1136+360T>A | |
ENST00000053867.7:c.1277T>A | ENSP00000053867.2:p.Leu426Gln | |
ENST00000586443.1:c.718T>A | ||
ENST00000589265.5:c.806T>A | ENSP00000467616.1:p.Leu269Gln | |
NM_002087.3:c.1277T>A | NP_002078.1:p.Leu426Gln | |
XM_005257253.1:c.1277T>A | XP_005257310.1:p.Leu426Gln | |
XM_024450730.1:c.1277T>A | XP_024306498.1:p.Leu426Gln | |
NM_002087.4:c.1277T>A MANE Select | NP_002078.1:p.Leu426Gln |