HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186079276C>G , CM000666.2:g.186079276C>G | GRCh38 |
NC_000004.11:g.187000430C>G , CM000666.1:g.187000430C>G | GRCh37 |
NC_000004.10:g.187237424C>G | NCBI36 |
NG_007278.1:g.15122C>G , LRG_117:g.15122C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698351.1:c.633+245C>G | ENSP00000513674.1:n.633+245C>G | |
ENST00000698352.1:c.*185+245C>G | ENSP00000513675.1:n.*185+245C>G | |
ENST00000296795.8:c.633+245C>G MANE Select | ENSP00000296795.3:n.633+245C>G | |
ENST00000296795.7:c.633+245C>G | ENSP00000296795.2:n.633+245C>G | |
ENST00000513189.1:c.633+245C>G | ENSP00000423386.1:n.633+245C>G | |
NM_003265.2:c.633+245C>G , LRG_117t1:c.633+245C>G | NP_003256.1:n.633+245C>G | |
NM_003265.3:c.633+245C>G MANE Select | NP_003256.1:n.633+245C>G |