HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42126069A>C , CM000684.2:g.42126069A>C | GRCh38 |
NG_008376.3:g.8923T>G | |
NG_008376.4:g.9742T>G |
HGVS | Amino-acid Change | |
---|---|---|
XM_011529966.1:c.1453-116T>G | XP_011528268.1:n.1453-116T>G | |
XM_011529967.1:c.1453-116T>G | XP_011528269.1:n.1453-116T>G | |
XM_011529968.1:c.1453-142T>G | XP_011528270.1:n.1453-142T>G | |
XM_011529969.1:c.1309-116T>G | XP_011528271.1:n.1309-116T>G | |
XM_011529970.1:c.1300-116T>G | XP_011528272.1:n.1300-116T>G |