HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31359246C>T , CM000668.2:g.31359246C>T | GRCh38 |
NC_000006.11:g.31327023C>T , CM000668.1:g.31327023C>T | GRCh37 |
NC_000006.10:g.31435002C>T | NCBI36 |
NG_023187.1:g.2967G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474381.2:n.1271-1565G>A | ||
ENST00000481849.6:n.1271-1565G>A | ||
ENST00000497377.6:n.1271-1565G>A | ||
ENST00000696559.1:c.-203-1565G>A | ENSP00000512717.1:n.-203-1565G>A | |
ENST00000696560.1:c.-203-1565G>A | ENSP00000512718.1:n.-203-1565G>A | |
ENST00000696561.1:c.-203-1565G>A | ENSP00000512719.1:n.-203-1565G>A | |
ENST00000696562.1:c.-135-1953G>A | ENSP00000512720.1:n.-135-1953G>A |