HGVS | Genome Assembly |
---|---|
NC_000017.11:g.75516184C>G , CM000679.2:g.75516184C>G | GRCh38 |
NC_000017.10:g.73512265C>G , CM000679.1:g.73512265C>G | GRCh37 |
NC_000017.9:g.71023860C>G | NCBI36 |
NG_013041.1:g.4657C>G | |
NG_033152.1:g.4400G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434205.8:c.-285C>G | ENSP00000406559.4:n.-285C>G | |
ENST00000679370.1:n.241C>G | ||
ENST00000434205.7:c.-285C>G | ENSP00000406559.3:n.-285C>G | |
XM_006721821.2:c.-450C>G | XP_006721884.1:n.-450C>G |