HGVS | Genome Assembly |
---|---|
NC_000001.11:g.45500277G>C , CM000663.2:g.45500277G>C | GRCh38 |
NC_000001.10:g.45965949G>C , CM000663.1:g.45965949G>C | GRCh37 |
NC_000001.9:g.45738536G>C | NCBI36 |
NG_013378.1:g.5094G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000401061.8:c.-56G>C | ENSP00000383840.4:n.-56G>C | |
NM_015506.2:c.-56G>C | NP_056321.2:n.-56G>C | |
NM_001330540.1:c.-278G>C | NP_001317469.1:n.-278G>C | |
XM_005270724.5:c.-56G>C | XP_005270781.1:n.-56G>C |