HGVS | Genome Assembly |
---|---|
NC_000011.10:g.1075693G>C , CM000673.2:g.1075693G>C | GRCh38 |
NC_000011.9:g.1075693G>C , CM000673.1:g.1075693G>C | GRCh37 |
NC_000011.8:g.1065693G>C | NCBI36 |
NG_051929.1:g.5819G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361558.7:n.146G>C | ||
ENST00000675028.1:c.119G>C | ENSP00000502432.1:p.Trp40Ser | |
NM_002457.3:c.119G>C | NP_002448.3:p.Trp40Ser | |
NM_002457.4:c.119G>C | NP_002448.4:p.Trp40Ser |