HGVS | Genome Assembly |
---|---|
NC_000017.11:g.27804316C>G , CM000679.2:g.27804316C>G | GRCh38 |
NC_000017.10:g.26131342C>G , CM000679.1:g.26131342C>G | GRCh37 |
NC_000017.9:g.23155469C>G | NCBI36 |
NG_011470.1:g.1214G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000582441.1:c.245G>C | ENSP00000462879.1:p.Arg82Thr | |
XM_011524859.1:c.-267G>C | XP_011523161.1:n.-267G>C |