HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69650035T>G , CM000673.2:g.69650035T>G | GRCh38 |
NC_000011.9:g.69464803T>G , CM000673.1:g.69464803T>G | GRCh37 |
NC_000011.8:g.69173984T>G | NCBI36 |
NG_007375.1:g.13931T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.724-1083T>G MANE Select | ENSP00000227507.2:n.724-1083T>G | |
ENST00000227507.2:c.724-1083T>G | ENSP00000227507.2:n.724-1083T>G | |
ENST00000542367.1:n.187-1083T>G | ||
NM_053056.2:c.724-1083T>G | NP_444284.1:n.724-1083T>G | |
XM_006718653.2:c.748-1083T>G | XP_006718716.1:n.748-1083T>G | |
NM_053056.3:c.724-1083T>G MANE Select | NP_444284.1:n.724-1083T>G |