HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31357564G>A , CM000668.2:g.31357564G>A | GRCh38 |
NC_000006.11:g.31325341G>A , CM000668.1:g.31325341G>A | GRCh37 |
NC_000006.10:g.31433320G>A | NCBI36 |
NG_023187.1:g.4649C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474381.2:n.1338+50C>T | ||
ENST00000481849.6:n.1338+50C>T | ||
ENST00000497377.6:n.1338+50C>T | ||
ENST00000696559.1:c.-136+50C>T | ENSP00000512717.1:n.-136+50C>T | |
ENST00000696560.1:c.-136+50C>T | ENSP00000512718.1:n.-136+50C>T | |
ENST00000696561.1:c.-136+50C>T | ENSP00000512719.1:n.-136+50C>T | |
ENST00000696562.1:c.-135-271C>T | ENSP00000512720.1:n.-135-271C>T | |
ENST00000603274.1:n.918G>A | ||
XR_926692.1:n.164+50C>T |