HGVS | Genome Assembly |
---|---|
NC_000023.11:g.46853751A>G , CM000685.2:g.46853751A>G | GRCh38 |
NC_000023.10:g.46713186A>G , CM000685.1:g.46713186A>G | GRCh37 |
NC_000023.9:g.46598130A>G | NCBI36 |
NG_009107.1:g.21840A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218340.4:c.378A>G MANE Select | ENSP00000218340.3:p.Glu126= | |
ENST00000218340.3:c.378A>G | ENSP00000218340.3:p.Glu126= | |
NM_006915.2:c.378A>G | NP_008846.2:p.Glu126= | |
NM_006915.3:c.378A>G MANE Select | NP_008846.2:p.Glu126= |