HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31357622T>G , CM000668.2:g.31357622T>G | GRCh38 |
NC_000006.11:g.31325399T>G , CM000668.1:g.31325399T>G | GRCh37 |
NC_000006.10:g.31433378T>G | NCBI36 |
NG_023187.1:g.4591A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474381.2:n.1330A>C | ||
ENST00000481849.6:n.1330A>C | ||
ENST00000497377.6:n.1330A>C | ||
ENST00000696559.1:c.-144A>C | ENSP00000512717.1:n.-144A>C | |
ENST00000696560.1:c.-144A>C | ENSP00000512718.1:n.-144A>C | |
ENST00000696561.1:c.-144A>C | ENSP00000512719.1:n.-144A>C | |
ENST00000696562.1:c.-135-329A>C | ENSP00000512720.1:n.-135-329A>C | |
ENST00000603274.1:n.976T>G | ||
XR_926692.1:n.156A>C |