HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133538810C>G , CM000672.2:g.133538810C>G | GRCh38 |
NC_000010.10:g.135352314C>G , CM000672.1:g.135352314C>G | GRCh37 |
NC_000010.9:g.135202304C>G | NCBI36 |
NG_008383.1:g.16448C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.1328C>G MANE Select | ENSP00000252945.3:p.Ala443Gly | |
ENST00000252945.7:c.1328C>G | ENSP00000252945.3:p.Ala443Gly | |
ENST00000368520.1:n.1358+918C>G | ||
ENST00000418356.1:c.917C>G | ENSP00000397299.1:p.Ala306Gly | |
ENST00000421586.5:c.1067C>G | ENSP00000412754.1:p.Ala356Gly | |
ENST00000463117.6:c.1328C>G | ENSP00000440689.1:p.Ala443Gly | |
ENST00000469258.1:n.424C>G | ||
ENST00000541080.5:c.744C>G | ||
NM_000773.3:c.1328C>G | NP_000764.1:p.Ala443Gly | |
NM_000773.4:c.1328C>G MANE Select | NP_000764.1:p.Ala443Gly |