HGVS | Genome Assembly |
---|---|
NC_000017.11:g.65225461C>T , CM000679.2:g.65225461C>T | GRCh38 |
NC_000017.10:g.63221579C>T , CM000679.1:g.63221579C>T | GRCh37 |
NC_000017.9:g.60652041C>T | NCBI36 |
NG_013021.1:g.93124C>T | |
NG_013021.2:g.93124C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262406.10:c.1867C>T MANE Select | ENSP00000262406.9:p.Arg623Ter | |
ENST00000635833.1:c.1867C>T | ENSP00000490658.1:p.Arg623Ter | |
ENST00000262406.9:c.1867C>T | ENSP00000262406.9:p.Arg623Ter | |
ENST00000443584.7:c.1858C>T | ENSP00000405814.3:p.Arg620Ter | |
ENST00000449996.7:c.1858C>T | ENSP00000396329.3:p.Arg620Ter | |
ENST00000577595.1:n.1795C>T | ||
ENST00000584234.5:c.*386C>T | ENSP00000463410.1:n.*386C>T | |
NM_001081955.2:c.1858C>T | NP_001075424.1:p.Arg620Ter | |
NM_003835.3:c.1867C>T | NP_003826.2:p.Arg623Ter | |
XM_011525426.1:c.1279C>T | XP_011523728.1:p.Arg427Ter | |
XM_011525426.3:c.1279C>T | XP_011523728.1:p.Arg427Ter | |
NM_003835.4:c.1867C>T MANE Select | NP_003826.2:p.Arg623Ter | |
NM_001081955.3:c.1858C>T | NP_001075424.1:p.Arg620Ter |