HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868735A>C , CM000664.2:g.240868735A>C | GRCh38 |
NC_000002.11:g.241808152A>C , CM000664.1:g.241808152A>C | GRCh37 |
NC_000002.10:g.241456825A>C | NCBI36 |
NG_008005.1:g.4991A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.3:c.-131A>C | ENSP00000302620.3:n.-131A>C | |
XR_924060.1:n.405+1498T>G |