HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153743233C>G , CM000685.2:g.153743233C>G | GRCh38 |
NC_000023.10:g.153008687C>G , CM000685.1:g.153008687C>G | GRCh37 |
NC_000023.9:g.152661881C>G | NCBI36 |
NG_009022.2:g.23366C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1878C>G MANE Select | ENSP00000218104.3:p.Ala626= | |
ENST00000218104.5:c.1878C>G | ENSP00000218104.3:p.Ala626= | |
NM_000033.3:c.1878C>G | NP_000024.2:p.Ala626= | |
XR_938507.1:n.2350C>G | ||
XR_938507.2:n.2350C>G | ||
NM_000033.4:c.1878C>G MANE Select | NP_000024.2:p.Ala626= |