HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063552C>G , CM000663.2:g.55063552C>G | GRCh38 |
NC_000001.10:g.55529225C>G , CM000663.1:g.55529225C>G | GRCh37 |
NC_000001.9:g.55301813C>G | NCBI36 |
NG_009061.1:g.29006C>G , LRG_275:g.29006C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*387C>G | ENSP00000501161.2:n.*387C>G | |
ENST00000710286.1:c.2404C>G | ENSP00000518176.1:p.His802Asp | |
ENST00000673903.1:c.1672C>G | ENSP00000501257.1:p.His558Asp | |
ENST00000302118.5:c.2047C>G MANE Select | ENSP00000303208.5:p.His683Asp | |
ENST00000490692.1:n.2593C>G | ||
NM_174936.3:c.2047C>G , LRG_275t1:c.2047C>G | NP_777596.2:p.His683Asp | |
NR_110451.1:n.1654C>G | ||
XM_011541193.1:c.1168C>G | XP_011539495.1:p.His390Asp | |
NM_174936.4:c.2047C>G MANE Select | NP_777596.2:p.His683Asp | |
NR_110451.2:n.1654C>G |