HGVS | Genome Assembly |
---|---|
NC_000013.11:g.108267101A>C , CM000675.2:g.108267101A>C | GRCh38 |
NC_000013.10:g.108919449A>C , CM000675.1:g.108919449A>C | GRCh37 |
NC_000013.9:g.107717450A>C | NCBI36 |
NG_029524.1:g.2473A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000486502.1:n.78-2999A>C | ||
XR_931715.1:n.1736A>C |