HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2444710T>A , CM000673.2:g.2444710T>A | GRCh38 |
NC_000011.9:g.2465940T>A , CM000673.1:g.2465940T>A | GRCh37 |
NC_000011.8:g.2422516T>A | NCBI36 |
NG_008935.1:g.4720T>A , LRG_287:g.4720T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.23+2T>A | ENSP00000434560.2:n.23+2T>A | |
ENST00000496887.6:c.23+2T>A | ENSP00000434560.1:n.23+2T>A |