HGVS | Genome Assembly |
---|---|
NC_000013.11:g.32315472G>A , CM000675.2:g.32315472G>A | GRCh38 |
NC_000013.10:g.32889609G>A , CM000675.1:g.32889609G>A | GRCh37 |
NC_000013.9:g.31787609G>A | NCBI36 |
NG_012772.3:g.4993G>A , LRG_293:g.4993G>A | |
NG_017006.1:g.1483C>T | |
NG_017006.2:g.4892C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000544455.6:c.-40+327G>A | ENSP00000439902.1:n.-40+327G>A | |
XM_011535203.1:c.-40+327G>A | XP_011533505.1:n.-40+327G>A |