HGVS | Genome Assembly |
---|---|
NC_000017.11:g.27804209G>C , CM000679.2:g.27804209G>C | GRCh38 |
NC_000017.10:g.26131235G>C , CM000679.1:g.26131235G>C | GRCh37 |
NC_000017.9:g.23155362G>C | NCBI36 |
NG_011470.1:g.1321C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000582441.1:c.352C>G | ENSP00000462879.1:p.Pro118Ala | |
XM_011524859.1:c.-160C>G | XP_011523161.1:n.-160C>G |