HGVS | Genome Assembly |
---|---|
NC_000003.12:g.116461768T>C , CM000665.2:g.116461768T>C | GRCh38 |
NC_000003.11:g.116180615T>C , CM000665.1:g.116180615T>C | GRCh37 |
NC_000003.10:g.117663305T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474851.1:c.179-16813A>G | ENSP00000418506.1:n.179-16813A>G |