HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203856995T>A , CM000664.2:g.203856995T>A | GRCh38 |
NC_000002.11:g.204721718T>A , CM000664.1:g.204721718T>A | GRCh37 |
NC_000002.10:g.204429963T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696479.1:c.47+2919T>A | ENSP00000512655.1:n.47+2919T>A | |
XR_923797.1:n.225-5478T>A |