HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31357214G>C , CM000668.2:g.31357214G>C | GRCh38 |
NC_000006.11:g.31324991G>C , CM000668.1:g.31324991G>C | GRCh37 |
NC_000006.10:g.31432970G>C | NCBI36 |
NG_023187.1:g.4999C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474381.2:n.1418C>G | ||
ENST00000481849.6:n.1418C>G | ||
ENST00000497377.6:n.1418C>G | ||
ENST00000696559.1:c.-56C>G | ENSP00000512717.1:n.-56C>G | |
ENST00000696560.1:c.-56C>G | ENSP00000512718.1:n.-56C>G | |
ENST00000696561.1:c.-56C>G | ENSP00000512719.1:n.-56C>G | |
ENST00000696562.1:c.-56C>G | ENSP00000512720.1:n.-56C>G | |
ENST00000603274.1:n.568G>C | ||
NM_005514.7:c.-56C>G | NP_005505.2:n.-56C>G |