HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445316C>G , CM000673.2:g.2445316C>G | GRCh38 |
NC_000011.9:g.2466546C>G , CM000673.1:g.2466546C>G | GRCh37 |
NC_000011.8:g.2423122C>G | NCBI36 |
NG_008935.1:g.5326C>G , LRG_287:g.5326C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.24-67C>G | ENSP00000434560.2:n.24-67C>G | |
ENST00000646564.2:c.218C>G | ENSP00000495806.2:p.Pro73Arg | |
ENST00000155840.12:c.218C>G MANE Select | ENSP00000155840.2:p.Pro73Arg | |
ENST00000155840.9:c.218C>G | ENSP00000155840.2:p.Pro73Arg | |
ENST00000496887.6:c.24-67C>G | ENSP00000434560.1:n.24-67C>G | |
NM_000218.2:c.218C>G , LRG_287t1:c.218C>G | NP_000209.2:p.Pro73Arg | |
NM_000218.3:c.218C>G MANE Select | NP_000209.2:p.Pro73Arg |