HGVS | Genome Assembly |
---|---|
NC_000016.10:g.176905C>G , CM000678.2:g.176905C>G | GRCh38 |
NC_000016.9:g.226904C>G , CM000678.1:g.226904C>G | GRCh37 |
NC_000016.8:g.166904C>G | NCBI36 |
NG_000006.1:g.37768C>G | |
NG_059186.1:g.5255C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320868.9:c.96-24C>G MANE Select | ENSP00000322421.5:n.96-24C>G | |
ENST00000397797.1:c.-1-24C>G | ENSP00000380899.1:n.-1-24C>G | |
ENST00000472694.1:n.208C>G | ||
ENST00000487791.1:n.65-24C>G | ||
NM_000558.4:c.96-24C>G | NP_000549.1:n.96-24C>G | |
NM_000558.5:c.96-24C>G MANE Select | NP_000549.1:n.96-24C>G |