HGVS | Genome Assembly |
---|---|
NC_000012.12:g.19713195A>G , CM000674.2:g.19713195A>G | GRCh38 |
NC_000012.11:g.19866129A>G , CM000674.1:g.19866129A>G | GRCh37 |
NC_000012.10:g.19757396A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000512223.6:c.339-7438A>G | ENSP00000445587.1:n.339-7438A>G |