HGVS | Genome Assembly |
---|---|
NC_000003.12:g.53057201A>G , CM000665.2:g.53057201A>G | GRCh38 |
NC_000003.11:g.53091217A>G , CM000665.1:g.53091217A>G | GRCh37 |
NC_000003.10:g.53066257A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000607203.1:c.318-9962T>C | ||
ENST00000607283.5:c.465-13947T>C | ||
ENST00000607495.5:c.447+20487T>C |