HGVS | Genome Assembly |
---|---|
NC_000005.10:g.65051794A>G , CM000667.2:g.65051794A>G | GRCh38 |
NC_000005.9:g.64347621A>G , CM000667.1:g.64347621A>G | GRCh37 |
NC_000005.8:g.64383377A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000693303.1:c.1153-47458A>G | ENSP00000508557.1:n.1153-47458A>G |