HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49359117A= , CM000665.2:g.49359117A= | GRCh38 |
NC_000003.11:g.49396550A= , CM000665.1:g.49396550A= | GRCh37 |
NC_000003.10:g.49371554A= | NCBI36 |
NG_012264.1:g.4242T= | |
NG_051308.1:g.57981T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000704380.1:n.25T= | ||
ENST00000704381.1:c.464+1210T= | ENSP00000515884.1:n.464+1210T= |