HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945757G>C , CM000665.2:g.138945757G>C | GRCh38 |
NC_000003.11:g.138664599G>C , CM000665.1:g.138664599G>C | GRCh37 |
NC_000003.10:g.140147289G>C | NCBI36 |
NG_012454.1:g.6384C>G | |
NG_029796.1:g.3524G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.966C>G MANE Select | ENSP00000497217.1:p.Leu322= | |
ENST00000330315.3:c.966C>G | ENSP00000333188.3:p.Leu322= | |
NM_023067.3:c.966C>G | NP_075555.1:p.Leu322= | |
NM_023067.4:c.966C>G MANE Select | NP_075555.1:p.Leu322= |