HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72243858G>C , CM000673.2:g.72243858G>C | GRCh38 |
NC_000011.9:g.71954902G>C , CM000673.1:g.71954902G>C | GRCh37 |
NC_000011.8:g.71632550G>C | NCBI36 |
NG_008169.1:g.5319C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298231.5:c.147C>G MANE Select | ENSP00000298231.5:p.Cys49Trp | |
ENST00000544057.1:n.85+1722C>G | ||
NM_005169.3:c.147C>G | NP_005160.2:p.Cys49Trp | |
NM_005169.4:c.147C>G MANE Select | NP_005160.2:p.Cys49Trp |