HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5234477A= , CM000673.2:g.5234477A= | GRCh38 |
NC_000011.9:g.5255707A= , CM000673.1:g.5255707A= | GRCh37 |
NC_000011.8:g.5212283A= | NCBI36 |
NG_000007.3:g.63139T= | |
NG_063112.2:g.14181T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000643122.1:c.-28-16T= | ENSP00000494708.1:n.-28-16T= | |
ENST00000650601.1:c.-44T= MANE Select | ENSP00000497529.1:n.-44T= | |
ENST00000292901.7:c.-44T= | ENSP00000292901.3:n.-44T= | |
ENST00000380299.3:c.-44T= | ENSP00000369654.3:n.-44T= | |
ENST00000417377.1:c.-44T= | ENSP00000414741.1:n.-44T= | |
ENST00000429817.1:c.-44T= | ENSP00000393810.1:n.-44T= | |
NM_000519.3:c.-44T= | NP_000510.1:n.-44T= | |
NM_000519.4:c.-44T= MANE Select | NP_000510.1:n.-44T= |