HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203857248T>C , CM000664.2:g.203857248T>C | GRCh38 |
NC_000002.11:g.204721971T>C , CM000664.1:g.204721971T>C | GRCh37 |
NC_000002.10:g.204430216T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696479.1:c.47+3172T>C | ENSP00000512655.1:n.47+3172T>C | |
XR_923797.1:n.225-5225T>C |