HGVS | Genome Assembly |
---|---|
NC_000015.10:g.26773790G>C , CM000677.2:g.26773790G>C | GRCh38 |
NC_000015.9:g.27018937G>C , CM000677.1:g.27018937G>C | GRCh37 |
NC_000015.8:g.24570030G>C | NCBI36 |
NG_012836.1:g.4991C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000638099.1:c.-20+153C>G | ENSP00000490678.1:n.-20+153C>G | |
ENST00000541819.6:c.249-1018C>G | ENSP00000442408.2:n.249-1018C>G | |
ENST00000557641.5:n.453-1018C>G |