HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43551596T>G , CM000681.2:g.43551596T>G | GRCh38 |
NC_000019.9:g.44055748T>G , CM000681.1:g.44055748T>G | GRCh37 |
NC_000019.8:g.48747588T>G | NCBI36 |
NG_033799.1:g.28983A>C , LRG_784:g.28983A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.1174A>C MANE Select | ENSP00000262887.5:p.Met392Leu | |
ENST00000262887.9:c.1174A>C | ENSP00000262887.4:p.Met392Leu | |
ENST00000543982.5:c.1081A>C | ENSP00000443671.1:p.Met361Leu | |
ENST00000597811.5:c.784A>C | ||
NM_006297.2:c.1174A>C , LRG_784t1:c.1174A>C | NP_006288.2:p.Met392Leu | |
NM_006297.3:c.1174A>C MANE Select | NP_006288.2:p.Met392Leu |