HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33275139G>C , CM000682.2:g.33275139G>C | GRCh38 |
NC_000020.10:g.31862945G>C , CM000682.1:g.31862945G>C | GRCh37 |
NC_000020.9:g.31326606G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000423645.5:c.-42+1485G>C | ENSP00000390471.1:n.-42+1485G>C | |
XM_024452018.1:c.-295+1485G>C | XP_024307786.1:n.-295+1485G>C |