HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133532182C>G , CM000672.2:g.133532182C>G | GRCh38 |
NC_000010.10:g.135345686C>G , CM000672.1:g.135345686C>G | GRCh37 |
NC_000010.9:g.135195676C>G | NCBI36 |
NG_008383.1:g.9820C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252945.8:c.546C>G MANE Select | ENSP00000252945.3:p.Asp182Glu | |
ENST00000252945.7:c.546C>G | ENSP00000252945.3:p.Asp182Glu | |
ENST00000368520.1:n.607C>G | ||
ENST00000418356.1:c.135C>G | ENSP00000397299.1:p.Asp45Glu | |
ENST00000421586.5:c.285C>G | ENSP00000412754.1:p.Asp95Glu | |
ENST00000463117.6:c.546C>G | ENSP00000440689.1:p.Asp182Glu | |
ENST00000477500.5:n.448+448C>G | ||
ENST00000541080.5:c.226+448C>G | ||
NM_000773.3:c.546C>G | NP_000764.1:p.Asp182Glu | |
NM_000773.4:c.546C>G MANE Select | NP_000764.1:p.Asp182Glu |