HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063581G= , CM000663.2:g.55063581G= | GRCh38 |
NC_000001.10:g.55529254G= , CM000663.1:g.55529254G= | GRCh37 |
NC_000001.9:g.55301842G= | NCBI36 |
NG_009061.1:g.29035G= , LRG_275:g.29035G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*416G= | ENSP00000501161.2:n.*416G= | |
ENST00000710286.1:c.2433G= | ENSP00000518176.1:p.Gln811= | |
ENST00000673903.1:c.1701G= | ENSP00000501257.1:p.Gln567= | |
ENST00000302118.5:c.2076G= MANE Select | ENSP00000303208.5:p.Gln692= | |
ENST00000490692.1:n.2622G= | ||
NM_174936.3:c.2076G= , LRG_275t1:c.2076G= | NP_777596.2:p.Gln692= | |
NR_110451.1:n.1683G= | ||
XM_011541193.1:c.1197G= | XP_011539495.1:p.Gln399= | |
NM_174936.4:c.2076G= MANE Select | NP_777596.2:p.Gln692= | |
NR_110451.2:n.1683G= |