HGVS | Genome Assembly |
---|---|
NC_000015.10:g.90501204C>A , CM000677.2:g.90501204C>A | GRCh38 |
NC_000015.9:g.91044436C>A , CM000677.1:g.91044436C>A | GRCh37 |
NC_000015.8:g.88845440C>A | NCBI36 |
NG_052946.1:g.117964C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268182.10:c.*1096C>A MANE Select | ENSP00000268182.5:n.*1096C>A | |
ENST00000268182.9:c.*1096C>A | ENSP00000268182.5:n.*1096C>A | |
ENST00000558957.1:n.2128C>A | ||
ENST00000561086.1:n.1837C>A | ||
NM_003870.3:c.*1096C>A | NP_003861.1:n.*1096C>A | |
XR_001751409.2:n.6199C>A | ||
NM_003870.4:c.*1096C>A MANE Select | NP_003861.1:n.*1096C>A |