HGVS | Genome Assembly |
---|---|
NC_000009.12:g.34646549G>C , CM000671.2:g.34646549G>C | GRCh38 |
NC_000009.11:g.34646546G>C , CM000671.1:g.34646546G>C | GRCh37 |
NC_000009.10:g.34636546G>C | NCBI36 |
NG_009029.1:g.4912G>C | |
NG_009029.2:g.4961G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000605275.1:n.209-128G>C |