HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203856994A>T , CM000664.2:g.203856994A>T | GRCh38 |
NC_000002.11:g.204721717A>T , CM000664.1:g.204721717A>T | GRCh37 |
NC_000002.10:g.204429962A>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696479.1:c.47+2918A>T | ENSP00000512655.1:n.47+2918A>T | |
XR_923797.1:n.225-5479A>T |