HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5234473G>T , CM000673.2:g.5234473G>T | GRCh38 |
NC_000011.9:g.5255703G>T , CM000673.1:g.5255703G>T | GRCh37 |
NC_000011.8:g.5212279G>T | NCBI36 |
NG_000007.3:g.63143C>A | |
NG_063112.2:g.14185C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000643122.1:c.-28-12C>A | ENSP00000494708.1:n.-28-12C>A | |
ENST00000650601.1:c.-40C>A MANE Select | ENSP00000497529.1:n.-40C>A | |
ENST00000292901.7:c.-40C>A | ENSP00000292901.3:n.-40C>A | |
ENST00000380299.3:c.-40C>A | ENSP00000369654.3:n.-40C>A | |
ENST00000417377.1:c.-40C>A | ENSP00000414741.1:n.-40C>A | |
ENST00000429817.1:c.-40C>A | ENSP00000393810.1:n.-40C>A | |
NM_000519.3:c.-40C>A | NP_000510.1:n.-40C>A | |
NM_000519.4:c.-40C>A MANE Select | NP_000510.1:n.-40C>A |