HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153736370C>A , CM000685.2:g.153736370C>A | GRCh38 |
NC_000023.10:g.153001824C>A , CM000685.1:g.153001824C>A | GRCh37 |
NC_000023.9:g.152655018C>A | NCBI36 |
NG_009022.2:g.16503C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1250C>A MANE Select | ENSP00000218104.3:p.Ala417Asp | |
ENST00000218104.5:c.1250C>A | ENSP00000218104.3:p.Ala417Asp | |
ENST00000443684.2:n.253C>A | ||
NM_000033.3:c.1250C>A | NP_000024.2:p.Ala417Asp | |
XR_938507.1:n.1666C>A | ||
XR_938507.2:n.1666C>A | ||
NM_000033.4:c.1250C>A MANE Select | NP_000024.2:p.Ala417Asp |