HGVS | Genome Assembly |
---|---|
NC_000008.11:g.127473701A>C , CM000670.2:g.127473701A>C | GRCh38 |
NC_000008.10:g.128485946A>C , CM000670.1:g.128485946A>C | GRCh37 |
NC_000008.9:g.128555128A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
NR_024393.1:n.1041+5382T>G | ||
NR_117100.1:n.1041+5382T>G |