HGVS | Genome Assembly |
---|---|
NC_000011.10:g.113475540G>C , CM000673.2:g.113475540G>C | GRCh38 |
NC_000011.9:g.113346262G>C , CM000673.1:g.113346262G>C | GRCh37 |
NC_000011.8:g.112851472G>C | NCBI36 |
NG_008841.1:g.4740C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000540600.5:n.34+118C>G | ||
XR_948024.2:n.902C>G |