HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67584765C>G , CM000673.2:g.67584765C>G | GRCh38 |
NC_000011.9:g.67352236C>G , CM000673.1:g.67352236C>G | GRCh37 |
NC_000011.8:g.67108812C>G | NCBI36 |
NG_012075.1:g.6171C>G , LRG_723:g.6171C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.225C>G | ENSP00000381604.1:p.Arg75= | |
ENST00000398606.10:c.225C>G MANE Select | ENSP00000381607.3:p.Arg75= | |
ENST00000646888.1:c.118C>G | ENSP00000494477.1:p.His40Asp | |
ENST00000398603.5:c.225C>G | ENSP00000381604.1:p.Arg75= | |
ENST00000398606.7:c.225C>G | ENSP00000381607.3:p.Arg75= | |
ENST00000489040.1:n.224C>G | ||
ENST00000494593.1:n.655C>G | ||
ENST00000498765.5:c.188C>G | ||
NM_000852.3:c.225C>G , LRG_723t1:c.225C>G | NP_000843.1:p.Arg75= | |
NM_000852.4:c.225C>G MANE Select | NP_000843.1:p.Arg75= |