HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196747260C>G , CM000663.2:g.196747260C>G | GRCh38 |
NC_000001.10:g.196716390C>G , CM000663.1:g.196716390C>G | GRCh37 |
NC_000001.9:g.194983013C>G | NCBI36 |
NG_007259.1:g.100250C>G , LRG_47:g.100250C>G |
HGVS | Amino-acid change | |
---|---|---|
NM_000186.3:c.3643C>G , LRG_47t1:c.3643C>G | NP_000177.2:p.Arg1215Gly | |
XR_001737134.2:n.3829C>G | ||
NM_000186.4:c.3643C>G VV MANE Preferred | NP_000177.2:p.Arg1215Gly | |
ENST00000367429.8:c.3643C>G | ENSP00000356399.4:p.Arg1215Gly | |
ENST00000466229.5:n.6741C>G |