HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063565C>G , CM000663.2:g.55063565C>G | GRCh38 |
NC_000001.10:g.55529238C>G , CM000663.1:g.55529238C>G | GRCh37 |
NC_000001.9:g.55301826C>G | NCBI36 |
NG_009061.1:g.29019C>G , LRG_275:g.29019C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*400C>G | ENSP00000501161.2:n.*400C>G | |
ENST00000710286.1:c.2417C>G | ENSP00000518176.1:p.Ala806Gly | |
ENST00000673903.1:c.1685C>G | ENSP00000501257.1:p.Ala562Gly | |
ENST00000302118.5:c.2060C>G MANE Select | ENSP00000303208.5:p.Ala687Gly | |
ENST00000490692.1:n.2606C>G | ||
NM_174936.3:c.2060C>G , LRG_275t1:c.2060C>G | NP_777596.2:p.Ala687Gly | |
NR_110451.1:n.1667C>G | ||
XM_011541193.1:c.1181C>G | XP_011539495.1:p.Ala394Gly | |
NM_174936.4:c.2060C>G MANE Select | NP_777596.2:p.Ala687Gly | |
NR_110451.2:n.1667C>G |