HGVS | Genome Assembly |
---|---|
NC_000011.10:g.113475541A>G , CM000673.2:g.113475541A>G | GRCh38 |
NC_000011.9:g.113346263A>G , CM000673.1:g.113346263A>G | GRCh37 |
NC_000011.8:g.112851473A>G | NCBI36 |
NG_008841.1:g.4739T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000540600.5:n.34+117T>C | ||
XR_948024.2:n.901T>C |