HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31359345C>G , CM000668.2:g.31359345C>G | GRCh38 |
NC_000006.11:g.31327122C>G , CM000668.1:g.31327122C>G | GRCh37 |
NC_000006.10:g.31435101C>G | NCBI36 |
NG_023187.1:g.2868G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000474381.2:n.1271-1664G>C | ||
ENST00000481849.6:n.1271-1664G>C | ||
ENST00000497377.6:n.1271-1664G>C | ||
ENST00000696559.1:c.-203-1664G>C | ENSP00000512717.1:n.-203-1664G>C | |
ENST00000696560.1:c.-203-1664G>C | ENSP00000512718.1:n.-203-1664G>C | |
ENST00000696561.1:c.-203-1664G>C | ENSP00000512719.1:n.-203-1664G>C | |
ENST00000696562.1:c.-135-2052G>C | ENSP00000512720.1:n.-135-2052G>C |