HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132369556G>C , CM000667.2:g.132369556G>C | GRCh38 |
NC_000005.9:g.131705248G>C , CM000667.1:g.131705248G>C | GRCh37 |
NC_000005.8:g.131733147G>C | NCBI36 |
NG_008982.1:g.4848G>C | |
NG_008982.2:g.4853G>C |
HGVS | Amino-acid Change | |
---|---|---|
NR_110997.1:n.73+288C>G |