HGVS | Genome Assembly |
---|---|
NC_000003.12:g.111333764T>A , CM000665.2:g.111333764T>A | GRCh38 |
NC_000003.11:g.111052611T>A , CM000665.1:g.111052611T>A | GRCh37 |
NC_000003.10:g.112535301T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000460744.1:c.-325-30749T>A | ENSP00000475194.1:n.-325-30749T>A | |
XR_924332.1:n.163+27246T>A |