HGVS | Genome Assembly |
---|---|
NC_000003.12:g.116461751C>G , CM000665.2:g.116461751C>G | GRCh38 |
NC_000003.11:g.116180598C>G , CM000665.1:g.116180598C>G | GRCh37 |
NC_000003.10:g.117663288C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474851.1:c.179-16796G>C | ENSP00000418506.1:n.179-16796G>C |