HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063559C>G , CM000663.2:g.55063559C>G | GRCh38 |
NC_000001.10:g.55529232C>G , CM000663.1:g.55529232C>G | GRCh37 |
NC_000001.9:g.55301820C>G | NCBI36 |
NG_009061.1:g.29013C>G , LRG_275:g.29013C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*394C>G | ENSP00000501161.2:n.*394C>G | |
ENST00000710286.1:c.2411C>G | ENSP00000518176.1:p.Ala804Gly | |
ENST00000673903.1:c.1679C>G | ENSP00000501257.1:p.Ala560Gly | |
ENST00000302118.5:c.2054C>G MANE Select | ENSP00000303208.5:p.Ala685Gly | |
ENST00000490692.1:n.2600C>G | ||
NM_174936.3:c.2054C>G , LRG_275t1:c.2054C>G | NP_777596.2:p.Ala685Gly | |
NR_110451.1:n.1661C>G | ||
XM_011541193.1:c.1175C>G | XP_011539495.1:p.Ala392Gly | |
NM_174936.4:c.2054C>G MANE Select | NP_777596.2:p.Ala685Gly | |
NR_110451.2:n.1661C>G |