HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7522610C>T , CM000681.2:g.7522610C>T | GRCh38 |
NC_000019.9:g.7587496C>T , CM000681.1:g.7587496C>T | GRCh37 |
NC_000019.8:g.7493496C>T | NCBI36 |
NG_015806.1:g.5001C>T |
HGVS | Amino-acid Change | |
---|---|---|
NM_020533.2:c.-141C>T | NP_065394.1:n.-141C>T | |
XR_936293.1:n.926+232G>A | ||
XR_936294.1:n.926+232G>A | ||
XR_936295.1:n.570+232G>A | ||
XR_936293.2:n.952+232G>A | ||
XR_936294.2:n.952+232G>A |