HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48303532G>A , CM000675.2:g.48303532G>A | GRCh38 |
NC_000013.10:g.48877668G>A , CM000675.1:g.48877668G>A | GRCh37 |
NC_000013.9:g.47775669G>A | NCBI36 |
NG_009009.1:g.4786G>A , LRG_517:g.4786G>A |
HGVS | Amino-acid Change | |
---|---|---|
NR_046414.1:n.130C>T | ||
NR_046414.2:n.171C>T |