HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827395G>C , CM000667.2:g.148827395G>C | GRCh38 |
NC_000005.9:g.148206958G>C , CM000667.1:g.148206958G>C | GRCh37 |
NC_000005.8:g.148187151G>C | NCBI36 |
NG_016421.1:g.5803G>C | |
NG_016421.2:g.5803G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.564G>C MANE Select | ENSP00000305372.4:p.Glu188Asp | |
ENST00000305988.5:c.564G>C | ENSP00000305372.4:p.Glu188Asp | |
NM_000024.5:c.564G>C | NP_000015.1:p.Glu188Asp | |
NM_000024.6:c.564G>C MANE Select | NP_000015.2:p.Glu188Asp |