HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60371972G>C , CM000680.2:g.60371972G>C | GRCh38 |
NC_000018.9:g.58039205G>C , CM000680.1:g.58039205G>C | GRCh37 |
NC_000018.8:g.56190185G>C | NCBI36 |
NG_016441.1:g.5797C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299766.5:c.378C>G MANE Select | ENSP00000299766.3:p.Asp126Glu | |
ENST00000299766.4:c.378C>G | ENSP00000299766.3:p.Asp126Glu | |
NM_005912.2:c.378C>G | NP_005903.2:p.Asp126Glu | |
NM_005912.3:c.378C>G MANE Select | NP_005903.2:p.Asp126Glu |