HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89750773C>A , CM000677.2:g.89750773C>A | GRCh38 |
NC_000015.9:g.90294004C>A , CM000677.1:g.90294004C>A | GRCh37 |
NC_000015.8:g.88095008C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300057.5:c.459G>T MANE Select | ENSP00000300057.4:p.Gln153His | |
ENST00000300057.4:c.459G>T | ENSP00000300057.4:p.Gln153His | |
ENST00000559894.1:n.114+251G>T | ||
NM_018670.3:c.459G>T | NP_061140.1:p.Gln153His | |
XR_001751350.1:n.459G>T | ||
XR_001751351.1:n.459G>T | ||
XR_001751352.1:n.459G>T | ||
XR_001751353.1:n.459G>T | ||
XR_001751354.1:n.459G>T | ||
NM_018670.4:c.459G>T MANE Select | NP_061140.1:p.Gln153His |