HGVS | Genome Assembly |
---|---|
NC_000019.10:g.53884187T>C , CM000681.2:g.53884187T>C | GRCh38 |
NC_000019.9:g.54387441T>C , CM000681.1:g.54387441T>C | GRCh37 |
NC_000019.8:g.59079253T>C | NCBI36 |
NG_009114.1:g.6975T>C , LRG_669:g.6975T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682028.1:c.229T>C | ENSP00000507230.1:p.Cys77Arg | |
ENST00000682268.1:n.527T>C | ||
ENST00000682902.1:n.531T>C | ||
ENST00000683513.1:c.229T>C | ENSP00000506809.1:p.Cys77Arg | |
ENST00000263431.4:c.229T>C MANE Select | ENSP00000263431.3:p.Cys77Arg | |
ENST00000263431.3:c.229T>C | ENSP00000263431.3:p.Cys77Arg | |
ENST00000419486.1:c.-156T>C | ENSP00000387919.2:n.-156T>C | |
ENST00000474397.5:c.-156T>C | ENSP00000471271.1:n.-156T>C | |
ENST00000479081.5:c.-156T>C | ENSP00000471544.1:n.-156T>C | |
NM_001316329.1:c.229T>C | NP_001303258.1:p.Cys77Arg | |
NM_002739.3:c.229T>C , LRG_669t1:c.229T>C | NP_002730.1:p.Cys77Arg | |
NM_002739.4:c.229T>C | NP_002730.1:p.Cys77Arg | |
NM_002739.5:c.229T>C MANE Select | NP_002730.1:p.Cys77Arg | |
NM_001316329.2:c.229T>C | NP_001303258.1:p.Cys77Arg |