HGVS | Genome Assembly |
---|---|
NC_000003.12:g.117061175A>C , CM000665.2:g.117061175A>C | GRCh38 |
NC_000003.11:g.116780022A>C , CM000665.1:g.116780022A>C | GRCh37 |
NC_000003.10:g.118262712A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000474851.1:c.34-51801T>G | ENSP00000418506.1:n.34-51801T>G |