HGVS | Genome Assembly |
---|---|
NC_000023.11:g.56565276A>C , CM000685.2:g.56565276A>C | GRCh38 |
NC_000023.10:g.56591709A>C , CM000685.1:g.56591709A>C | GRCh37 |
NC_000023.9:g.56608434A>C | NCBI36 |
NG_016249.1:g.6684A>C , LRG_665:g.6684A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000338222.7:c.1403A>C MANE Select | ENSP00000345195.5:p.Glu468Ala | |
ENST00000338222.6:c.1403A>C | ENSP00000345195.5:p.Glu468Ala | |
NM_013444.3:c.1403A>C , LRG_665t1:c.1403A>C | NP_038472.2:p.Glu468Ala | |
XM_011530837.1:c.273+1536A>C | XP_011529139.1:n.273+1536A>C | |
NM_013444.4:c.1403A>C MANE Select | NP_038472.2:p.Glu468Ala |