HGVS | Genome Assembly |
---|---|
NC_000013.11:g.32315457C>A , CM000675.2:g.32315457C>A | GRCh38 |
NC_000013.10:g.32889594C>A , CM000675.1:g.32889594C>A | GRCh37 |
NC_000013.9:g.31787594C>A | NCBI36 |
NG_012772.3:g.4978C>A , LRG_293:g.4978C>A | |
NG_017006.1:g.1498G>T | |
NG_017006.2:g.4907G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000544455.6:c.-40+312C>A | ENSP00000439902.1:n.-40+312C>A | |
XM_011535203.1:c.-40+312C>A | XP_011533505.1:n.-40+312C>A |