HGVS | Genome Assembly |
---|---|
NC_000015.10:g.26774265G>A , CM000677.2:g.26774265G>A | GRCh38 |
NC_000015.9:g.27019412G>A , CM000677.1:g.27019412G>A | GRCh37 |
NC_000015.8:g.24570505G>A | NCBI36 |
NG_012836.1:g.4516C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000541819.6:c.249-1493C>T | ENSP00000442408.2:n.249-1493C>T | |
ENST00000557641.5:n.453-1493C>T |