HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154097751C>A , CM000685.2:g.154097751C>A | GRCh38 |
NC_000023.10:g.153363208C>A , CM000685.1:g.153363208C>A | GRCh37 |
NC_000023.9:g.153016402C>A | NCBI36 |
NG_007107.2:g.44371G>T | |
NG_007107.3:g.44353G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303391.10:c.-246G>T | ENSP00000301948.6:n.-246G>T | |
ENST00000453960.6:c.-86G>T | ENSP00000395535.2:n.-86G>T | |
ENST00000631210.1:n.305+7030G>T |