HGVS | Genome Assembly |
---|---|
NC_000024.10:g.18935690C>A , CM000686.2:g.18935690C>A | GRCh38 |
NC_000024.9:g.21097576C>A , CM000686.1:g.21097576C>A | GRCh37 |
NC_000024.8:g.19556964C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
NR_125733.1:n.579-2215G>T | ||
NR_125734.1:n.579-58485G>T | ||
NR_125735.1:n.504-58485G>T | ||
NR_125736.1:n.139-23208G>T | ||
NR_125737.1:n.139-2849G>T | ||
NR_001543.4:n.504-2849G>T | ||
NR_125737.2:n.139-2849G>T | ||
NR_158640.1:n.153-58485G>T | ||
NR_158641.1:n.369-2849G>T |