HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40185630G>A , CM000677.2:g.40185630G>A | GRCh38 |
NC_000015.9:g.40477831G>A , CM000677.1:g.40477831G>A | GRCh37 |
NC_000015.8:g.38265123G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287598.11:c.1046G>A MANE Select | ENSP00000287598.7:p.Arg349Gln | |
ENST00000287598.10:c.1046G>A | ENSP00000287598.6:p.Arg349Gln | |
ENST00000412359.7:c.1088G>A | ENSP00000398470.3:p.Arg363Gln | |
ENST00000557848.1:n.305G>A | ||
ENST00000559733.5:c.170+1747G>A | ||
ENST00000559772.1:n.159G>A | ||
XR_001751506.1:n.218-5429C>T | ||
NM_001211.6:c.1046G>A MANE Select | NP_001202.5:p.Arg349Gln |