HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67584754C>G , CM000673.2:g.67584754C>G | GRCh38 |
NC_000011.9:g.67352225C>G , CM000673.1:g.67352225C>G | GRCh37 |
NC_000011.8:g.67108801C>G | NCBI36 |
NG_012075.1:g.6160C>G , LRG_723:g.6160C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.214C>G | ENSP00000381604.1:p.His72Asp | |
ENST00000398606.10:c.214C>G MANE Select | ENSP00000381607.3:p.His72Asp | |
ENST00000646888.1:c.107C>G | ENSP00000494477.1:p.Ser36Ter | |
ENST00000398603.5:c.214C>G | ENSP00000381604.1:p.His72Asp | |
ENST00000398606.7:c.214C>G | ENSP00000381607.3:p.His72Asp | |
ENST00000489040.1:n.213C>G | ||
ENST00000494593.1:n.644C>G | ||
ENST00000498765.5:c.177C>G | ||
NM_000852.3:c.214C>G , LRG_723t1:c.214C>G | NP_000843.1:p.His72Asp | |
NM_000852.4:c.214C>G MANE Select | NP_000843.1:p.His72Asp |