HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2444967G>A , CM000673.2:g.2444967G>A | GRCh38 |
NC_000011.9:g.2466197G>A , CM000673.1:g.2466197G>A | GRCh37 |
NC_000011.8:g.2422773G>A | NCBI36 |
NG_008935.1:g.4977G>A , LRG_287:g.4977G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.23+259G>A | ENSP00000434560.2:n.23+259G>A | |
ENST00000496887.6:c.23+259G>A | ENSP00000434560.1:n.23+259G>A |