HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169586586C>G , CM000663.2:g.169586586C>G | GRCh38 |
NC_000001.10:g.169555824C>G , CM000663.1:g.169555824C>G | GRCh37 |
NC_000001.9:g.167822448C>G | NCBI36 |
NG_011806.1:g.4946G>C , LRG_553:g.4946G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367796.3:c.-200G>C | ENSP00000356770.3:n.-200G>C | |
ENST00000367797.7:c.-200G>C | ENSP00000356771.3:n.-200G>C | |
XM_017000660.2:c.-519G>C | XP_016856149.1:n.-519G>C |