HGVS | Genome Assembly |
---|---|
NC_000015.10:g.90501225A>G , CM000677.2:g.90501225A>G | GRCh38 |
NC_000015.9:g.91044457A>G , CM000677.1:g.91044457A>G | GRCh37 |
NC_000015.8:g.88845461A>G | NCBI36 |
NG_052946.1:g.117985A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268182.10:c.*1117A>G MANE Select | ENSP00000268182.5:n.*1117A>G | |
ENST00000268182.9:c.*1117A>G | ENSP00000268182.5:n.*1117A>G | |
ENST00000558957.1:n.2149A>G | ||
ENST00000561086.1:n.1858A>G | ||
NM_003870.3:c.*1117A>G | NP_003861.1:n.*1117A>G | |
XR_001751409.2:n.6220A>G | ||
NM_003870.4:c.*1117A>G MANE Select | NP_003861.1:n.*1117A>G |