HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5234463T>C , CM000673.2:g.5234463T>C | GRCh38 |
NC_000011.9:g.5255693T>C , CM000673.1:g.5255693T>C | GRCh37 |
NC_000011.8:g.5212269T>C | NCBI36 |
NG_000007.3:g.63153A>G | |
NG_063112.2:g.14195A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000643122.1:c.-28-2A>G | ENSP00000494708.1:n.-28-2A>G | |
ENST00000650601.1:c.-30A>G MANE Select | ENSP00000497529.1:n.-30A>G | |
ENST00000292901.7:c.-30A>G | ENSP00000292901.3:n.-30A>G | |
ENST00000380299.3:c.-30A>G | ENSP00000369654.3:n.-30A>G | |
ENST00000417377.1:c.-30A>G | ENSP00000414741.1:n.-30A>G | |
ENST00000429817.1:c.-30A>G | ENSP00000393810.1:n.-30A>G | |
NM_000519.3:c.-30A>G | NP_000510.1:n.-30A>G | |
NM_000519.4:c.-30A>G MANE Select | NP_000510.1:n.-30A>G |