HGVS | Genome Assembly |
---|---|
NC_000017.11:g.27804213G>T , CM000679.2:g.27804213G>T | GRCh38 |
NC_000017.10:g.26131239G>T , CM000679.1:g.26131239G>T | GRCh37 |
NC_000017.9:g.23155366G>T | NCBI36 |
NG_011470.1:g.1317C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000582441.1:c.348C>A | ENSP00000462879.1:p.Ala116= | |
XM_011524859.1:c.-164C>A | XP_011523161.1:n.-164C>A |