HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060772A>C , CM000681.2:g.49060772A>C | GRCh38 |
NC_000019.9:g.49564029A>C , CM000681.1:g.49564029A>C | GRCh37 |
NC_000019.8:g.54255841A>C | NCBI36 |
NG_016289.1:g.8096T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000599795.5:c.243+983T>G | ENSP00000470689.1:n.243+983T>G | |
XM_011527575.1:c.-20T>G | XP_011525877.1:n.-20T>G | |
XR_001753693.1:n.879+392T>G | ||
XR_001753694.1:n.917T>G |