HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2289459C>A , CM000678.2:g.2289459C>A | GRCh38 |
NC_000016.9:g.2339460C>A , CM000678.1:g.2339460C>A | GRCh37 |
NC_000016.8:g.2279461C>A | NCBI36 |
NG_011790.1:g.56288G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.2675G>T MANE Select | ENSP00000301732.5:p.Arg892Leu | |
ENST00000301732.9:c.2675G>T | ENSP00000301732.5:p.Arg892Leu | |
ENST00000382381.7:c.2501G>T | ENSP00000371818.3:p.Arg834Leu | |
ENST00000563623.5:n.3238G>T | ||
NM_001089.2:c.2675G>T | NP_001080.2:p.Arg892Leu | |
NM_001089.3:c.2675G>T MANE Select | NP_001080.2:p.Arg892Leu |