HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154097764C>T , CM000685.2:g.154097764C>T | GRCh38 |
NC_000023.10:g.153363221C>T , CM000685.1:g.153363221C>T | GRCh37 |
NC_000023.9:g.153016415C>T | NCBI36 |
NG_007107.2:g.44358G>A | |
NG_007107.3:g.44340G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453960.6:c.-99G>A | ENSP00000395535.2:n.-99G>A | |
ENST00000631210.1:n.305+7017G>A |