HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942719G>T , CM000678.2:g.67942719G>T | GRCh38 |
NC_000016.9:g.67976622G>T , CM000678.1:g.67976622G>T | GRCh37 |
NC_000016.8:g.66534123G>T | NCBI36 |
NG_009778.1:g.6394C>A | |
NG_033098.1:g.30976C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.475C>A MANE Select | ENSP00000264005.5:p.Arg159= | |
ENST00000264005.9:c.475C>A | ENSP00000264005.5:p.Arg159= | |
ENST00000570369.5:c.155+142C>A | ||
ENST00000570980.1:c.259C>A | ENSP00000464651.1:p.Arg87= | |
ENST00000573538.5:c.118C>A | ENSP00000463220.1:p.Arg40= | |
ENST00000573846.1:n.89C>A | ||
ENST00000575277.1:n.253C>A | ||
ENST00000575467.5:c.*170C>A | ENSP00000460653.1:n.*170C>A | |
NM_000229.1:c.475C>A | NP_000220.1:p.Arg159= | |
NM_000229.2:c.475C>A MANE Select | NP_000220.1:p.Arg159= |