HGVS | Genome Assembly |
---|---|
NC_000003.12:g.53057235A>C , CM000665.2:g.53057235A>C | GRCh38 |
NC_000003.11:g.53091251A>C , CM000665.1:g.53091251A>C | GRCh37 |
NC_000003.10:g.53066291A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000607203.1:c.318-9996T>G | ||
ENST00000607283.5:c.465-13981T>G | ||
ENST00000607495.5:c.447+20453T>G |