HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102785708A>C , CM000673.2:g.102785708A>C | GRCh38 |
NC_000011.9:g.102656439A>C , CM000673.1:g.102656439A>C | GRCh37 |
NC_000011.8:g.102161649A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371455.7:n.325-12316A>C | ||
ENST00000525739.6:n.389+1644A>C | ||
ENST00000544704.1:n.344+1644A>C | ||
NR_038390.1:n.389+1644A>C |