HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183143277A>G , CM000663.2:g.183143277A>G | GRCh38 |
NC_000001.10:g.183112412A>G , CM000663.1:g.183112412A>G | GRCh37 |
NC_000001.9:g.181379035A>G | NCBI36 |
NG_011463.1:g.124818A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258341.5:c.*487A>G MANE Select | ENSP00000258341.3:n.*487A>G | |
ENST00000258341.4:c.*487A>G | ENSP00000258341.3:n.*487A>G | |
NM_002293.3:c.*487A>G | NP_002284.3:n.*487A>G | |
NM_002293.4:c.*487A>G MANE Select | NP_002284.3:n.*487A>G |