HGVS | Genome Assembly |
---|---|
NC_000017.11:g.27804200A>T , CM000679.2:g.27804200A>T | GRCh38 |
NC_000017.10:g.26131226A>T , CM000679.1:g.26131226A>T | GRCh37 |
NC_000017.9:g.23155353A>T | NCBI36 |
NG_011470.1:g.1330T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000582441.1:c.361T>A | ENSP00000462879.1:p.Cys121Ser | |
XM_011524859.1:c.-151T>A | XP_011523161.1:n.-151T>A |