HGVS | Genome Assembly |
---|---|
NC_000017.11:g.27804211C>G , CM000679.2:g.27804211C>G | GRCh38 |
NC_000017.10:g.26131237C>G , CM000679.1:g.26131237C>G | GRCh37 |
NC_000017.9:g.23155364C>G | NCBI36 |
NG_011470.1:g.1319G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000582441.1:c.350G>C | ENSP00000462879.1:p.Ser117Thr | |
XM_011524859.1:c.-162G>C | XP_011523161.1:n.-162G>C |