HGVS | Genome Assembly |
---|---|
NC_000003.12:g.46499657T>C , CM000665.2:g.46499657T>C | GRCh38 |
NC_000003.11:g.46541147T>C , CM000665.1:g.46541147T>C | GRCh37 |
NC_000003.10:g.46516151T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684260.1:c.156-699T>C | ENSP00000507138.1:n.156-699T>C | |
ENST00000296142.4:c.156-699T>C MANE Select | ENSP00000296142.3:n.156-699T>C | |
ENST00000296142.3:c.156-699T>C | ENSP00000296142.3:n.156-699T>C | |
NM_031440.1:c.156-699T>C | NP_113628.1:n.156-699T>C | |
NM_031440.2:c.156-699T>C MANE Select | NP_113628.1:n.156-699T>C |