HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176794A>C , CM000674.2:g.21176794A>C | GRCh38 |
NC_000012.11:g.21329728A>C , CM000674.1:g.21329728A>C | GRCh37 |
NC_000012.10:g.21220995A>C | NCBI36 |
NG_011745.1:g.50601A>C , LRG_1022:g.50601A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.378A>C MANE Select | ENSP00000256958.2:p.Glu126Asp | |
ENST00000256958.2:c.378A>C | ENSP00000256958.2:p.Glu126Asp | |
ENST00000543498.5:c.444A>C | ||
NM_006446.4:c.378A>C , LRG_1022t1:c.378A>C | NP_006437.3:p.Glu126Asp | |
NM_006446.5:c.378A>C MANE Select | NP_006437.3:p.Glu126Asp |