HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942938G>A , CM000678.2:g.67942938G>A | GRCh38 |
NC_000016.9:g.67976841G>A , CM000678.1:g.67976841G>A | GRCh37 |
NC_000016.8:g.66534342G>A | NCBI36 |
NG_009778.1:g.6175C>T | |
NG_033098.1:g.30757C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.350C>T MANE Select | ENSP00000264005.5:p.Ala117Val | |
ENST00000264005.9:c.350C>T | ENSP00000264005.5:p.Ala117Val | |
ENST00000570369.5:c.78C>T | ||
ENST00000570980.1:c.134C>T | ENSP00000464651.1:p.Ala45Val | |
ENST00000575277.1:n.128C>T | ||
ENST00000575467.5:c.*45C>T | ENSP00000460653.1:n.*45C>T | |
NM_000229.1:c.350C>T | NP_000220.1:p.Ala117Val | |
NM_000229.2:c.350C>T MANE Select | NP_000220.1:p.Ala117Val |