HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30904711A>G , CM000678.2:g.30904711A>G | GRCh38 |
NC_000016.9:g.30916032A>G , CM000678.1:g.30916032A>G | GRCh37 |
NC_000016.8:g.30823533A>G | NCBI36 |
NG_009171.1:g.13105A>G , LRG_408:g.13105A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000412003.1:n.241T>C |