HGVS | Genome Assembly |
---|---|
NC_000001.11:g.193121991G>C , CM000663.2:g.193121991G>C | GRCh38 |
NC_000001.10:g.193091121G>C , CM000663.1:g.193091121G>C | GRCh37 |
NC_000001.9:g.191357744G>C | NCBI36 |
NG_012691.1:g.5034G>C , LRG_507:g.5034G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649895.1:n.9G>C | ||
NM_024529.4:c.-210G>C , LRG_507t1:c.-210G>C | NP_078805.3:n.-210G>C | |
XR_001738350.1:n.1666C>G |