HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2444756C>G , CM000673.2:g.2444756C>G | GRCh38 |
NC_000011.9:g.2465986C>G , CM000673.1:g.2465986C>G | GRCh37 |
NC_000011.8:g.2422562C>G | NCBI36 |
NG_008935.1:g.4766C>G , LRG_287:g.4766C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.23+48C>G | ENSP00000434560.2:n.23+48C>G | |
ENST00000496887.6:c.23+48C>G | ENSP00000434560.1:n.23+48C>G |