HGVS | Genome Assembly |
---|---|
NC_000012.12:g.131529661A>G , CM000674.2:g.131529661A>G | GRCh38 |
NC_000012.11:g.132014206A>G , CM000674.1:g.132014206A>G | GRCh37 |
NC_000012.10:g.130580159A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
XR_945564.1:n.1076+114T>C | ||
XR_001749407.2:n.1067+114T>C |